| Biological Basis of Cell Trafficking: A General Overview. | Gimeno-Agud H, Díaz-Osorio Y, Oyarzábal A | 2025-01-01 | autophagy, cell trafficking, cytoskeleton, endocytosis, exocytosis, membrane contact sites, membrane trafficking | Journal of inherited metabolic disease |
| Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders. | Díaz-Osorio Y, Gimeno-Agud H, Mari-Vico R, Illescas S, Ramos JM, Darling A, García-Cazorla À, Oyarzábal A | 2025-01-01 | NBAS, SYNJ1, autophagy, cell trafficking, neurodevelopmental diseases, spermidine | Journal of inherited metabolic disease |
| TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning. | de Calbiac H, Montealegre S, Straube M, Renault S, Debruge H, Chentout L, Ciura S, Imbard A, Guillou EL, Marian A, Goudin N, Caccavelli L, Fabrega S, Hubas A, van Endert P, Dupont N, Diana J, Kabashi E, de Lonlay P | 2024-12-31 | Autophagy, TANGO2, calpeptin, myoblasts, rhabdomyolysis, zebrafish | Autophagy reports |
| Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry. | Ducatez F, Mauhin W, Ottaviani J, Plichet T, Pilon C, Lidove O, Barbey F, Perrichot R, Vergnaud S, Berger MG, Berger J, Belmatoug N, Nadjar Y, Lamari F, Noel E, Marret S, Bekri S, Tebani A | 2024-12-27 | dried blood spot, lysosomal diseases, mass spectrometry, screening, sphingolipids | Journal of clinical laboratory analysis |
| Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease. | de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J | 2024-12-13 | LAL-D, LIPA gene, Wolman disease, cholesteryl ester storage disease, diet, enzyme replacement therapy, infantile-onset lysosomal acid lipase deficiency, lysosomal acid lipase, lysosomal acid lipase deficiency, sebelipase | Nutrients |
| Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study. | Brachet M, Charrière S, Douillard C, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin-Robinet C, Leguy-Seguin V, Gissot V, Maillot F | 2024-12-12 | Adults, Episodic memory, Executive functioning, Phenylketonuria, Speed processing, Working memory | Journal of neurology |
| Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders. | Imbard A, de Calbiac H, Le Guillou E, Laforêt P, Schiff M, Brassier A, Thevenet E, Pontoizeau C, Lefrère B, Ottolenghi C, Lebigot E, Gaignard P, Gobin S, Acquaviva-Bourdain C, Benoist JF, Tuchmann-Durand C, Legendre A, de Lonlay P | 2024-12-09 | acylcarnitine, cardiac output, exercise test, fatty acid beta‐oxidation disorder, oxygen consumption, triheptanoin | Journal of inherited metabolic disease |
| Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals. | Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM | 2024-12-03 | (orphan) medicinal products, health care professional perspective, nutritional therapy, treatment access, urea cycle disorders | Journal of inherited metabolic disease |
| Nutritional Management of Patients with Inborn Errors of Metabolism. | Couce ML, Vitoria I | 2024-11-30 | | Nutrients |
| Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). | Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ | 2024-11-26 | NGS, functional assays, lysosomal diseases, metachromatic leukodystrophy, phenotypic variation, rare diseases | Genes |
| Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS. | Mendes MI, Wolf NI, Rudinger-Thirion J, Lenz D, Frugier M, Verloo P, Mandel H, Manor J, Kassel R, Corpeleijn WE, van der Rijt S, Schroor EM, van Dooren SJM, Staufner C, Salomons GS, Smith DEC | 2024-11-22 | | Nucleic acids research |
| Development of a novel tool for individual treatment trials in mucopolysaccharidosis. | Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, Kampmann C, Zimmermann G, Lagler FB | 2024-11-21 | decision analysis framework, immunomodulation, individual treatment trials, mucopolysaccharidosis, personalized medicine, repurposing, risk–benefit assessment | Journal of inherited metabolic disease |
| Iron Skin Staining: A Rare but Permanent Complication Following IV Iron Infusion. | Dias da Costa T, Mateus-Pinheiro A, Moreira S | 2024-11-18 | Extravasation of Diagnostic and Therapeutic Materials, Ferric Compounds/adverse effects, Iron/adverse effects, Skin Pigmentation/drug effects | Acta medica portuguesa |
| Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing. | Mora-Castaño G, Rodríguez-Pombo L, Carou-Senra P, Januskaite P, Rial C, Bendicho-Lavilla C, Couce ML, Millán-Jiménez M, Caraballo I, Basit AW, Alvarez-Lorenzo C, Goyanes A | 2024-11-16 | 3D printed pharmaceuticals, Additive manufacturing, Drug delivery systems, modified release formulations, Pediatric precision treatments, Pharma-inks, Rare metabolic disorders | International journal of pharmaceutics |
| Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey. | Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M, Rahman S | 2024-11-11 | cofactors, cross sectional study, inherited metabolic disease, primary mitochondrial disease, survey, treatment, vitamins | Journal of inherited metabolic disease |
| Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease. | Germain DP, Porto Vasconcelos A, Tran Thi Phuong L, Bedreddine N, Turcan M, Trang W, Barache L | 2024-11-11 | Fabry disease, agalsidase beta, quality of life, reduced infusion time, safety, tolerability | Biomedicines |
| The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). | Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT | 2024-11-01 | Acid alpha-glucosidase deficiency, Acid maltase deficiency, Glycogen storage disease (GSD) type II, Lysosomal storage disease, Pompe disease | Orphanet journal of rare diseases |
| Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey. | Olofsson S, Löfvendahl S, Widén J, Jacobson L, Lindgren P, Stepien KM, Arnoux JB, Luz Couce Pico M, Leão Teles E, Rudebeck M | 2024-11-01 | ARG1‐D, arginase 1 deficiency, caregiver, disease burden, patient perspective, urea cycle disorder | JIMD reports |
| Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. | Herreño-Pachón AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, Álvarez JV, Tomatsu S | 2024-10-25 | AAV, GALNS, MPS IVA, gene therapy, keratan sulfate, skeletal dysplasia | Human gene therapy |
| An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria. | Mastroeni P, Geminiani M, Olmastroni T, Frusciante L, Trezza A, Visibelli A, Santucci A | 2024-10-01 | alkaptonuria, homogentisic acid, inflammation, metabolic disease, ochronotic pigment, oxidative stress | Journal of cellular physiology |
| Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. | Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML | 2024-09-30 | GALM deficiency, Galactose mutarotase deficiency, Type IV galactosemia | BMC pediatrics |
| Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication. | Rodriguez-Gonzalez H, Ormazabal A, Casado M, Arias AY, Oliva C, Barranco-Altirriba M, Casadevall R, García-Cuyas F, Nascimento A, Ortez C, Natera-de Benito D, Armangué T, O'Callaghan MM, Juliá-Palacios N, Darling A, Ortigoza-Escobar JD, Fons C, García-Cazorla A, Perera-Lluna A, Artuch R | 2024-09-27 | | Clinical chemistry |
| Prevalence of Fabry Disease in Patients on Dialysis in France. | Sens F, Guittard L, Knebelmann B, Moranne O, Choukroun G, de Précigout V, Couchoud C, Deleruyelle I, Lancelot L, Tran Thi Phuong L, Ghafari T, Fabrydial Study Group, Juillard L, Germain DP | 2024-09-20 | Fabry disease, dialysis, genetic variants, prevalence, screening | International journal of molecular sciences |
| Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases. | Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P | 2024-09-14 | Acute decompensation, Drug contraindication, Emergency protocol, Emergency treatment, Inborn errors of metabolism (IEM), Inherited metabolic disorders (IMD) | Molecular genetics and metabolism |
| HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model. | Mastroeni P, Trezza A, Geminiani M, Frusciante L, Visibelli A, Santucci A | 2024-09-07 | HGA, alkaptonuria, amyloid, docking and molecular dynamics simulation, metabolic disease, molecular modeling, secondary amyloidosis, serum amyloid A, serum amyloid P | Cells |
| Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey. | Olofsson S, Löfvendahl S, Widén J, Rudebeck M, Lindgren P, Stepien KM, Arnoux JB, Couce ML, Teles EL, Jacobson L | 2024-09-04 | Arginase 1 deficiency, I, I00, I3, I31, caregiver, health-related quality-of-life, societal cost, survey | Journal of medical economics |
| Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy. | Llansó L, Segarra-Casas A, Domínguez-González C, Malfatti E, Kapetanovic S, Rodríguez-Santiago B, de la Calle O, Blanco R, Dobrescu A, Nascimento-Osorio A, Paipa A, Hernandez-Lain A, Jou C, Mariscal A, González-Mera L, Arteche A, Lleixà C, Caballero-Ávila M, Carbayo Á, Vesperinas A, Querol L, Gallardo E, Olivé M | 2024-09-01 | | Neurology(R) neuroimmunology & neuroinflammation |
| Nutrient Status and Intakes of Adults with Phenylketonuria. | Venegas E, Langeveld S, Ahring K, Benitez R, Desloovere A, Dios E, Gómez E, Hermida A, Marsaux C, Verloo P, Couce ML | 2024-08-15 | amino acid, cognitive wellbeing, micronutrient, nutritional status, phenylalanine hydroxylase deficiency | Nutrients |
| The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings. | Barbero-Herranz R, Garriga-García M, Moreno-Blanco A, Palacios E, Ruiz-Sala P, Vicente-Santamaría S, Stanescu S, Belanger-Quintana A, Pintos-Morell G, Arconada B, Del Campo R, Avendaño-Ortiz J | 2024-08-14 | Bacteroides thetaiotaomicron, SCFAs, Sanfilippo syndrome, Sus genes, gut microbiota | International journal of molecular sciences |
| Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases. | de Calbiac H, Imbard A, de Lonlay P | 2024-08-12 | ATP, anterograde trafficking, autophagy, calcium, cellular trafficking, complex lipid membrane composition, inherited metabolic diseases, mitophagy, rhabdomyolysis | Journal of inherited metabolic disease |
| Pain and heart rate variability in neonates receiving dexmedetomidine. | Sevivas C, Ibáñez R, Fontalvo M, Couce ML, Camprubí-Camprubí M | 2024-07-20 | | Journal of perinatology : official journal of the California Perinatal Association |
| Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome. | Tost A, Bachiller A, Medina-Rivera I, Romero S, Serna LY, Rojas-Martínez M, García-Cazorla Á, Mañanas MÁ | 2024-07-16 | | Pediatric research |
| New variants expand the neurological phenotype of COQ7 deficiency. | Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C | 2024-07-08 | COQ7, CoQ10, mitochondrial diseases, neurological disorders | Journal of inherited metabolic disease |
| Challenges and opportunities in neurometabolic disease treatment with enzyme delivery. | Begley D, Gabathuler R, Pastores G, Garcia-Cazorla A, Ardigò D, Scarpa M, Tomanin R, Tosi G | 2024-07-04 | Blood–brain barrier, inborn errors of metabolism, neurodegeneration, neurometabolic disorders, physiological and synthetic delivery systems | Expert opinion on drug delivery |
| Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease. | de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A | 2024-06-25 | | Orphanet journal of rare diseases |
| The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis. | Mercado-Gómez M, Goikoetxea-Usandizaga N, Kerbert AJC, Gracianteparaluceta LU, Serrano-Maciá M, Lachiondo-Ortega S, Rodriguez-Agudo R, Gil-Pitarch C, Simón J, González-Recio I, Fondevila MF, Santamarina-Ojeda P, Fraga MF, Nogueiras R, Heras JL, Jalan R, Martínez-Chantar ML, Delgado TC | 2024-06-19 | Ammonia, Glutaminase, Lipopolysaccharide, Metabolic-associated steatotic liver disease, Toll-like receptor 4, Urea cycle | Metabolism: clinical and experimental |
| Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3. | Høj A, Ørngreen MC, Naume MM, Lund AM | 2024-06-13 | Chitotriosidase, Enzyme replacement therapy, Gaucher disease type 3, Hematopoietic stem cell transplantation, Inherited metabolic disorder, Lysosomal storage disorder | Molecular genetics and metabolism |
| Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study. | Mengel E, Scarpa M, Guffon N, Jones SA, Goriya V, Msihid J, Dyevre V, Rodriguez C, Gasparic M, Nalysnyk L, Laredo F, Pulikottil-Jacob R | 2024-06-08 | ASMD type A/B, ASMD type B, Acid sphingomyelinase deficiency, Natural history, Retrospective study | European journal of medical genetics |
| Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing. | Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F | 2024-06-06 | ATP6AP1-CDG, Congenital disorders of glycosylation, Intronic variant, RNA-seq, Whole exome sequencing, Whole genome sequencing | Molecular genetics and metabolism |
| Exploring current and emerging therapies for porphyrias. | Jericó D, Córdoba KM, Urigo F, Enríquez de Salamanca R, Anderson KE, Deybach JC, Ávila MA, Fontanellas A | 2024-05-30 | RNA interference technology, antisense oligonucleotide therapy, chaperone, direct‐acting antiviral agents, drug repositioning, haem synthesis, intracellular transport inhibitor, mRNA formulated in lipid nanoparticles, melanogenesis stimulator, porphyrias | Liver international : official journal of the International Association for the Study of the Liver |
| Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population. | Castells Vilella L, Sánchez-Pintos P, Muñiz Llama JF, Gámez Martínez M, Couce ML, Antón J | 2024-05-27 | | Archives of pathology & laboratory medicine |
| EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome. | Tost A, Romero S, Alonso JF, Bachiller A, Serna LY, Medina-Rivera I, García-Cazorla Á, Mañanas MÁ | 2024-05-24 | Attention, Cognitive stimulation, EEG connectivity, Pediatrics, Rett syndrome, Therapeutic intervention | Research in developmental disabilities |
| A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. | Couce ML, Bóveda MD, Castiñeiras DE, Vázquez-Mosquera ME, Barbosa-Gouveia S, De Castro MJ, Iglesias-Rodríguez AJ, Colón C, Cocho JA, Sánchez P | 2024-05-17 | Age at first NBS, Dried urine samples, Intelligence quotient, Mass spectrometry, Second biomarker | Orphanet journal of rare diseases |
| Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients. | Derks B, Kumar VS, Yadnik S, Panis B, Bosch AM, Cassiman D, Janssen MCH, Schuhmann T, Rubio-Gozalbo ME, Jansma BM | 2024-04-24 | P300, classic galactosemia, event related potentials, language production, late positivity, theta time frequency, transcranial alternating current stimulation (tACS) | Journal of inherited metabolic disease |
| Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders. | Rodríguez-Pombo L, de Castro-López MJ, Sánchez-Pintos P, Giraldez-Montero JM, Januskaite P, Duran-Piñeiro G, Dolores Bóveda M, Alvarez-Lorenzo C, Basit AW, Goyanes A, Couce ML | 2024-04-19 | Additive manufacturing of drug products, Patient acceptability of formulations, Pediatrics, Polypills, Precision pharmaceuticals, Semi-solid extrusion 3D printing | International journal of pharmaceutics |
| Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group. | Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S | 2024-04-04 | consensus, epilepsy, management, mitochondrial diseases, recommendations | European journal of neurology |
| Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant. | Durin Z, Raynor A, Fenaille F, Cholet S, Vuillaumier-Barrot S, Alili JM, Poupon J, Oussedik ND, Tuchmann-Durand C, Attali J, Touzé R, Dupré T, Lebredonchel E, Akaffou MA, Legrand D, de Lonlay P, Bruneel A, Foulquier F | 2024-04-01 | Glycosylation, Golgi, Manganese, TMEM165, galactose | Translational research : the journal of laboratory and clinical medicine |
| Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. | Álvarez JV, Bravo SB, Chantada-Vázquez MP, Pena C, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML | 2024-03-12 | animal studies, biomarkers, mucopolysaccharidosis type IV, musculoskeletal manifestations, proteomic | International journal of molecular sciences |
| Women with Gaucher Disease. | Meijon-Ortigueira MDM, Solares I, Muñoz-Delgado C, Stanescu S, Morado M, Pascual-Izquierdo C, Villalon Blanco L, Belanger Quintana A, Menéndez-Conde CP, Morales-Conejo M, Villarrubia-Espinosa J | 2024-03-05 | Gaucher disease, enzyme-replacement therapy (ERT), lysosomal-storage disorder, substrate-reduction therapy (SRT), women | Biomedicines |
| Pubertal origin of growth retardation in inborn errors of protein metabolism: A longitudinal cohort study. | Busiah K, Roda C, Crosnier AS, Brassier A, Servais A, Wicker C, Dubois S, Assoun M, Belloche C, Ottolenghi C, Pontoizeau C, Souberbielle JC, Piketty ML, Perin L, Le Bouc Y, Arnoux JB, Netchine I, Imbard A, de Lonlay P | 2024-03-01 | Amino acid mixture, Body composition, Growth retardation, Inherited amino-acid metabolism disorders, Protein-restricted diet, Pubertal delay | Molecular genetics and metabolism |
| Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation. | Guerrero-Molina MP, Bernabeu-Sanz Á, Ramos-González A, Morales-Conejo M, Delmiro A, Domínguez-González C, Arenas J, Martín MA, González de la Aleja J | 2024-03-01 | Glutamate, Glutamine supplementation, MELAS syndrome, MRI spectroscopy, Mitochondrial disease | Neuroradiology |
| Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings. | Dupuy G, Roux CJ, Barrois R, Imbard A, Pontoizeau C, Dangles MT, Aubart M, Arnoux JB, Margoses D, Brassier A, Marbach C, Bérat CM, Sarda E, Gitiaux C, de Lonlay P, Boddaert N, Schiff M, Desguerre I | 2024-02-26 | Child(ren), Combined sclerosis of the spinal cord, Early onset encephalopathy, Scurvy, Vitamin deficiencies, Wernicke encephalopathy | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study. | Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á | 2024-02-21 | N-methyl-d-aspartate receptor, l-serine, developmental and epileptic encephalopathy, neurodevelopmental disorders, precision medicine | Brain : a journal of neurology |
| Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium-Chain Acyl-CoA dehydrogenase deficiency. | Guerra IMS, Ferreira HB, Maurício T, Pinho M, Diogo L, Moreira S, Goracci L, Bonciarelli S, Melo T, Domingues P, Domingues MR, Moreira ASP | 2024-02-14 | Lipid profile, Lipidomics, Mass spectrometry, Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), Phospholipids (PL), Plasma analysis, Triacylglycerols (TG) | Journal of inherited metabolic disease |
| Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study. | Mignani R, Americo C, Aucella F, Battaglia Y, Cianci V, Sapuppo A, Lanzillo C, Pennacchiotti F, Tartaglia L, Marchi G, Pieruzzi F | 2024-02-02 | Agalsidase beta, Anti-drug antibodies, Enzyme replacement therapy, Fabry disease, Infusion time, Infusion-associated reactions | Orphanet journal of rare diseases |
| Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene. | Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L, Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL | 2024-02-01 | | European journal of human genetics : EJHG |
| Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. | Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T | 2024-02-01 | Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, Survey | Journal of neurology |
| Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic. | Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML | 2024-01-31 | Odimet®, dietary program, inborn errors of metabolism, nutritional management, tele-health | Nutrients |
| Tetrahydrobiopterin (BH4 ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model. | Jung-Kc K, Tristán-Noguero A, Altankhuyag A, Piñol Belenguer D, Prestegård KS, Fernandez-Carasa I, Colini Baldeschi A, Sigatulina Bondarenko M, García-Cazorla A, Consiglio A, Martinez A | 2024-01-09 | dopamine, iPSC-derived neurons, mice model, pharmacological chaperones, tetrahydrobiopterin (BH4), tyrosine hydroxylase deficiency (THD) | Journal of inherited metabolic disease |
| Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. | Ramos Bachiller B, Luque-Ramírez M, Rodríguez-Jiménez C, Arrieta Blanco FJ | 2024-01-08 | 21-Hydroxylase, 21-hidroxilasa, APOB gene, CYP21A2, Familial hypobetalipoproteinaemia, Gen APOB, Hiperplasia suprarrenal congénita no clásica, Hipobetalipoproteinemia familiar, Non-classical congenital adrenal hyperplasia | Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis |
| Brain function in classic galactosemia, a galactosemia network (GalNet) members review. | Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME | 2024-01-01 | brain, classic galactosemia, cognitive problems, galactose, movement disorders, neurodevelopment, neuropsychiatry | Frontiers in genetics |
| Management of phenylketonuria in European PKU centres remains heterogeneous. | Ahring K, Bélanger-Quintana A, Burlina A, Giżewska M, Maillot F, Muntau A, Roscher A, MacDonald A | 2024-01-01 | 24-h Phe-fluctuations monitoring, Adherence, GI discomfort, Phenylketonuria, Protein substitutes, Sleep problems | Molecular genetics and metabolism |
| Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry. | Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J | 2024-01-01 | Acid maltase deficiency, Enzymatic replacement therapy, Glycogen storage disease type II, Myozime, Patient registry, Pompe disease, Spanish Pompe registry | Neuromuscular disorders : NMD |
| Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins. | Telehuz D, Plesa O, Bouilloud F, Wucher H, De Lonlay P, Bérat CM, Saint-Martin C, Dupuy O, Arnoux JB | 2024-01-01 | ABCC8, compound heterotozygosity, congenital hyperinsulinaemic hypoglycaemia, congenital hyperinsulinism (CHI), diazoxide-unresponsive, pasireotide | Frontiers in endocrinology |
| How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity. | Baciga F, Marchi G, Caccia F, Momentè C, Esposito P, Aucella F, Vitturi N, Pederzoli L, Shakkour M, Granata A, Zicarelli MT, Girelli D, Andreucci M, Carraro G, Battaglia Y | 2024-01-01 | Anemia, Cardiac, Depression, Enzyme replacement therapy, Fabry disease, Lysosomal disease, Migalastat, Neurologic, Physical exercise, Psychosocial condition, Skeletal muscle | Kidney & blood pressure research |
| Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report. | Martín-Rivada Á, Murray Hurtado M, Martín-Hernández E | 2024-01-01 | glycerol phenylbutyrate, hyperammonemia, inborn errors metabolism, ornithine transacarbamylase deficiency, urea cycle disorders | Frontiers in nutrition |
| Magnitude and dynamics of the T-cell response to SARS-CoV-2 infection at both individual and population levels. | Snyder TM, Gittelman RM, Klinger M, May DH, Osborne EJ, Taniguchi R, Jabran Zahid H, Kaplan IM, Dines JN, Noakes MT, Pandya R, Chen X, Elasady S, Svejnoha E, Ebert P, Pesesky MW, De Almeida P, O'Donnell H, DeGottardi Q, Keitany G, Lu J, Vong A, Elyanow R, Fields P, Al-Asadi H, Greissl J, Baldo L, Semprini S, Cerchione C, Nicolini F, Mazza M, Delmonte OM, Dobbs K, Laguna-Goya R, Carreño-Tarragona G, Barrio S, Imberti L, Sottini A, Quiros-Roldan E, Rossi C, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Tompkins MF, Alba C, Dalgard C, Sambri V, Martinelli G, Goldman JD, Heath JR, Su HC, Notarangelo LD, Paz-Artal E, Martinez-Lopez J, Howie B, Carlson JM, Robins HS | 2024-01-01 | COVID-19, SARS-CoV-2, T cell, TCR repertoire, cellular immunity, immune response | Frontiers in immunology |
| 3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations. | Carou-Senra P, Rodríguez-Pombo L, Monteagudo-Vilavedra E, Awad A, Alvarez-Lorenzo C, Basit AW, Goyanes A, Couce ML | 2023-12-25 | chewable formulations and oral drug products, dietary therapy and supplements, direct ink writing 3D-printed drug delivery systems, extrusion-based three-dimensional printing of personalized pharma-inks, intermediary metabolic diseases, on-demand dispensing of pharmaceuticals and medicines, pediatric patients | Nutrients |
| Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do? | Simões M, Santos MJ, Martins S, Macário MDC, Durães J, Diogo L, Oliveira JP, Ferreira JC, Grazina M | 2023-12-18 | OXPHOS, functional genomics, laboratorial diagnosis, methodology, mitochondrial cytopathies, rare diseases | Endocrine, metabolic & immune disorders drug targets |
| Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment. | Diogo R, Diogo L, Serra R, Almeida J, Oliveira A | 2023-12-01 | early recognition, hematopoietic stem cell transplant, lysosomal storage disorder, mucopolysaccharidosis type 1, multiorgan dysfunction | Cureus |
| Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval. | Lodewyckx P, Issa J, Gaschignard M, Lamireau D, De Lonlay P, Servais A, Barth M, Courapied S, Morin G, Benbrik N, Maillot F, Babuty D, Labarthe F, Lefort B | 2023-12-01 | Cardiomyopathy, Primary carnitine deficiency, Short QT syndrome, Sudden death, Ventricular arrythmia | Molecular genetics and metabolism |
| Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States. | Ramos-Álvarez R, Kapp M, Bélanger-Quintana A, Rodríguez-Ruiz MM, Solano-Galvis CA, Campos Soto A, Ahring K, Waisbren SE | 2023-12-01 | Caregiver, Diet, Dietary knowledge, Phe levels, Phenylketonuria | Nutrition (Burbank, Los Angeles County, Calif.) |
| ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. | Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M | 2023-12-01 | ATP2B2, Ataxia, Dystonia, Neurodevelopmental disorder, Plasma membrane Ca(2+) ATPase isoform 2 | Genetics in medicine : official journal of the American College of Medical Genetics |
| RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. Pharmaceutics 2023, 15, 1565. | Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, Kampmann C, Zimmermann G, Lagler FB | 2023-11-07 | | Pharmaceutics |
| Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission. | Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Juliá-Palacios N, Ribeiro-Constante J, Altafaj X, Olivella M, O'Callaghan M, Darling A, Armstrong J, Artuch R, García-Cazorla À, Oyarzábal A | 2023-11-06 | Rett syndrome, SLC7A5, metabolomics, neurodevelopmental diseases, tryptophan | Journal of inherited metabolic disease |
| The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies. | Vos EN, Demirbas D, Mangel M, Gozalbo MER, Levy HL, Berry GT | 2023-11-01 | Biochemical genetics, Enzyme replacement, Inborn error of metabolism (IEM), Newborn screening (NBS), Nucleic acid therapy, Substrate reduction therapy | Molecular genetics and metabolism |
| X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. | Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB | 2023-11-01 | Creatine transporter deficiency, Female case report, Proton magnetic resonance spectroscopy, SLC6A8, Supplementation treatment, X-linked intellectual disability | Molecular genetics and metabolism |
| Correction: Vitamin C and folate status in hereditary fructose intolerance. | Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J | 2023-11-01 | | European journal of clinical nutrition |
| Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism. | Stolwijk NN, Bosch AM, Bouwhuis N, Häberle J, van Karnebeek C, van Spronsen FJ, Langeveld M, Hollak CEM | 2023-11-01 | European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy | Journal of inherited metabolic disease |
| Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management. | Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P | 2023-11-01 | Coagulation, Emergency protocol, Haemorrhages, PMM2-CDG, Stroke-like episodes, Thrombosis | Molecular genetics and metabolism |
| Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. | Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S | 2023-11-01 | developmental and epileptic encephalopathy, dihydroorotase, epilepsy, functional validation assay, inborn metabolic disease, molecular dynamics, protein structure-function, pyrimidine metabolism, treatment, uridine, variant of uncertain significance, x-ray crystallography | Journal of inherited metabolic disease |
| European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children. | Guerlich K, Patro-Golab B, Barnacle A, Baumann U, Eicken A, Fraser AG, Gruszfeld D, Haas NA, Jonker AH, Kammermeier M, Kenny D, Kolaček S, Lapatto R, Maconochie I, Mader S, McGauran G, Melvin T, Muensterer O, Piscoi P, Romano A, Saxena AK, Schneider DT, Turner MA, Walle JV, Koletzko B | 2023-11-01 | children, clinical evaluation, clinical investigation, expert workshop, high-risk medical devices, recommendations | Acta paediatrica (Oslo, Norway : 1992) |
| Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter? | Pereira Mendes J, Nogueira A, Grilo E, Ferreira S, Diogo L, Cancelinha C | 2023-10-30 | Children, Complexity, Home care, Hospital resources, Inherited metabolic diseases, Paediatric palliative care referral | Endocrine, metabolic & immune disorders drug targets |
| Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome. | Musokhranova U, Grau C, Vergara C, Rodríguez-Pascau L, Xiol C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, García-Cazorla A, Oyarzábal A | 2023-10-26 | Bioenergetics, Leriglitazone, Metabolic modulation, Mitochondria, Neuroinflammation, Rett syndrome | Journal of translational medicine |
| Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study. | Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P, O'Callaghan Gordo M | 2023-10-22 | Gaucher disease type 3, clinical manifestations, mutations, treatment | Biomedicines |
| Citrullinemia and What Else? | Almeida J, Ferreira F, Baptista N, Ferreira S, Santos C, Diogo L | 2023-10-18 | Citrullinemia type I (CTLN1), Genetic background, Neurocognitive dysfunction, Perinatal issues | Endocrine, metabolic & immune disorders drug targets |
| Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. | Diogo R, Rua IB, Ferreira S, Nogueira C, Pereira C, Rosmaninho-Salgado J, Diogo L | 2023-10-01 | intellectual disability, methylmalonic aciduria, methylmalonyl-coa epimerase, seizures, spasticity | Cureus |
| Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant. | Justel M, Jou C, Sariego-Jamardo A, Juliá-Palacios NA, Ortez C, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina A, Dominguez-Carral J, Muxart J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estevez-Arias B, Musokhranova U, Olivella M, Oyarzábal A, Jimenez-Mallebrera C, Domínguez-González C, Nascimento A, García-Cazorla À, Natera-de Benito D | 2023-10-01 | epilepsy, genetics, population, movement disorders, neuromuscular diseases | Journal of medical genetics |
| Health-related quality of life in a european sample of adults with early-treated classical PKU. | Maissen-Abgottspon S, Muri R, Hochuli M, Reismann P, Barta AG, Alptekin IM, Hermida-Ameijeiras Á, Burlina AP, Burlina AB, Cazzorla C, Carretta J, Trepp R, Everts R | 2023-09-22 | Cognition, Health-related quality of life, Inherited metabolic disease, Metabolic control, Phenylketonuria | Orphanet journal of rare diseases |
| SERAC1 Deficiency- A New Phenotype. | Martins E, Durães J, Nogueira C, Gomes J, Vilarinho L, Macário C | 2023-09-14 | 3-methylglutaconic aciduria, MEGD(H)EL syndrome, MEGDEL syndrome, SERAC1 deficiency | Endocrine, metabolic & immune disorders drug targets |
| Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria. | Rocha JC, Ahring KK, Bausell H, Bilder DA, Harding CO, Inwood A, Longo N, Muntau AC, Pessoa ALS, Rohr F, Sivri S, Hermida Á | 2023-09-11 | PKU, adult, comorbidities, consensus recommendations, low Phe diet, medical nutrition therapy, modified Delphi, phenylketonuria | Nutrients |
| Development of tools to facilitate the diagnosis of hereditary fructose intolerance. | Panis B, Janssen LEF, Lefeber DJ, Simons N, Rubio-Gozalbo ME, Brouwers MCGJ | 2023-09-01 | food diary, fructose, glycosylation of transferrin, hereditary fructose intolerance (HFI) | JIMD reports |
| Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease. | Mariño Z, Molera-Busoms C, Badenas C, Quintero-Bernabeu J, Torra M, Forns X, Artuch R | 2023-09-01 | REC, Wilson disease, exchangeable copper, labile copper, non-ceruloplasmin bound copper, serum biomarkers | Journal of inherited metabolic disease |
| Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships. | Rosenberg N, Stolwijk NN, van den Berg S, Heus JJ, van der Wel V, van Gelder T, Bosch AM, de Visser SJ, Hollak CEM | 2023-09-01 | medicine development, orphan medicinal products, public-private partnerships, rare diseases, socially responsible pricing | Journal of inherited metabolic disease |
| The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature. | Sudul P, Piatkowska-Jakubas B, Pawlinski L, Galazka K, Sacha T, Kiec-Wilk B | 2023-08-25 | Gaucher disease, adult-oriented medical care, biomarkers, coordination of care, enzyme replacement therapy, genetics, molecular diagnosis, multiple myeloma | Journal of clinical medicine |
| Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas. | Vitoria-Miñana I, Couce ML, González-Lamuño D, García-Peris M, Correcher-Medina P | 2023-08-13 | breastfeeding, diet therapy, glutaric aciduria 1, homocystinuria, human milk, inborn error of metabolism, maple syrup urine disease, phenylketonuria, tyrosinemia 1, urea cycle disorder | Nutrients |
| Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings. | Brassier A, Pichard S, Schiff M, Bouchereau J, Bérat CM, Caillaud C, Pion A, Khraiche D, Fauroux B, Oualha M, Barnerias C, Desguerre I, Hully M, Maquet M, Deladrière E, de Lonlay P, Gitiaux C | 2023-08-01 | Enzyme replacement therapy, Infantile onset Pompe disease, Juvenile onset Pompe disease, Lysosomal storage disease, Motor neuron involvement, Myopathic phenotype | Molecular genetics and metabolism |
| Citrulline in the management of patients with urea cycle disorders. | Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P | 2023-07-21 | Ammonia, Arginine, Citrulline, Urea cycle disorders | Orphanet journal of rare diseases |
| Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective. | Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch R, Barić I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM, Coene KLM | 2023-07-16 | 4, 5-dihydroxyheptanoic acid, 4, 5-dihydroxyhexanoic acid, GABA metabolism, biomarker, cerebrospinal fluid, neurotransmission, next generation metabolic screening, pathophysiology, untargeted metabolomics, zebrafish SSADH model | Journal of inherited metabolic disease |
| Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up. | Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS | 2023-07-04 | AADCD, Aromatic L-amino acid decarboxylase, Eladocagene exuparvovec, gene therapy, iNTD registry, neurotransmitter | Journal of inherited metabolic disease |
| BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening. | Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A | 2023-07-03 | BCKDK, autism spectrum disorder, intellectual disability, microcephaly, newborn screening | Brain : a journal of neurology |
| Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. | Wanner C, Ortiz A, Wilcox WR, Hopkin RJ, Johnson J, Ponce E, Ebels JT, Batista JL, Maski M, Politei JM, Martins AM, Banikazemi M, Linhart A, Mauer M, Oliveira JP, Weidemann F, Germain DP | 2023-07-01 | Fabry disease, Registry, agalsidase beta, enzyme replacement therapy, natural history, real-world data | Molecular genetics and metabolism |
| Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency? | Renard P, Caccavelli L, Legendre A, Tuchmann-Durand C, Balakirouchenane D, Blanchet B, Narjoz C, Straube M, Hubas A, Garros A, Mention K, Bednarek N, Goudin N, Broissand C, Schlatter J, Cisternino S, Cagnard N, van Endert P, Diana J, de Calbiac H, de Lonlay P | 2023-07-01 | Autophagy, Hydroxychloroquine, LPIN1, Oxidative stress, Treatment | Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie |
| Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients. | Tuchmann-Durand C, Roda C, Renard P, Mortamet G, Bérat CM, Altenburger L, de Larauz MH, Thevenet E, Cottart CH, Moulin F, Bouchereau J, Brassier A, Arnoux JB, Schiff M, Bednarek N, Lamireau D, Garros A, Mention K, Cano A, Finger L, Pelosi M, Brochet CS, Caccavelli L, Raphalen JH, Renolleau S, Oualha M, de Lonlay P | 2023-07-01 | corticosteroid, lipin-1 deficiency, rhabdomyolysis, survival | Journal of inherited metabolic disease |
| Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency. | Baonza G, Stanescu S, Belanger-Quintana A, Martínez-Pardo M, Arrieta F | 2023-06-01 | | Endocrinologia, diabetes y nutricion |
| Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol. | Battaglia Y, Bulighin F, Zerbinati L, Vitturi N, Marchi G, Carraro G | 2023-05-26 | ACE inhibitors, SGLT2 inhibitors, angiotensin receptor blockers, chronic kidney disease, migalastat, nephropathy | Journal of clinical medicine |
| An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. | Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T, Kampmann C, Zimmermann G, Lagler FB | 2023-05-22 | decision analysis framework, immunomodulation, individual treatment trials, mucopolysaccharidosis, personalized medicine, risk–benefit assessment | Pharmaceutics |
| Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. | Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A | 2023-05-15 | Bioenergetics, Demyelinating disorders, Lipid rafts, Metabolism, Neuroscience | The Journal of clinical investigation |
| Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force. | Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S | 2023-05-09 | Clinical research networks, Diagnosis, IRDiRC, Interoperability, Patient unmet needs, Rare diseases, Therapies | Orphanet journal of rare diseases |
| European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance. | Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J | 2023-05-01 | CFSPID, carriers, CFTR gene analysis, Cystic fibrosis, IRT, Newborn bloodspot screening, PAP | Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society |
| Newborn Screening in a Pandemic-Lessons Learned. | Mlinaric M, Bonham JR, Kožich V, Kölker S, Majek O, Battelino T, Torkar AD, Koracin V, Perko D, Remec ZI, Lampret BR, Scarpa M, Schielen PCJI, Zetterström RH, Groselj U | 2023-04-11 | COVID-19, NBS, contingency plan, dried blood spot, newborn screening, pandemic, telemedicine | International journal of neonatal screening |
| Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD). | De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, Tonin P, Croce MG, Pegoraro E, Politano L, Maggi L, Telese R, Lerario A, Sancricca C, Vercelli L, Semplicini C, Pasanisi B, Bembi B, Dardis A, Palmieri I, Cereda C, Valente EM, Danesino C | 2023-04-01 | exonic variants, genetic modifiers, genotype–phenotype correlates, glycogen catabolism, glycogen synthesis, late-onset Pompe disease (LOPD) | Current issues in molecular biology |
| Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease. | Barbosa-Gouveia S, Fernández-Crespo S, Lazaré-Iglesias H, González-Quintela A, Vázquez-Agra N, Hermida-Ameijeiras Á | 2023-03-30 | ABCA1, ApoA-I, Tangier disease, bioinformatics, high-density lipoprotein | Journal of clinical medicine |
| Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders. | Münch J, Prasuhn J, Laugwitz L, Fung CW, Chung BH, Bellusci M, Mayatepek E, Klee D, Distelmaier F | 2023-03-14 | Leigh syndrome, mitochondrial oxidative phosphorylation, multiple system atrophy, neurodegeneration, ubiquinone | Antioxidants (Basel, Switzerland) |
| Individual Treatment Trials-Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis? | Wiesinger AM, Strobl H, Lagler FB | 2023-03-09 | ESITT, MPS, decision analysis framework model, expert survey, individual treatment trials, mucopolysaccharidosis, n-of-1, precision medicine, rare disease treatment | Pharmaceuticals (Basel, Switzerland) |
| Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. | Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D | 2023-03-08 | burden of disease, disease management, health equity, health policies, patient journey, rare diseases, social impact | International journal of environmental research and public health |
| Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis. | Borgwardt LG, Ceravolo F, Zardi G, Ballabeni A, Lund AM | 2023-03-01 | MAN2B1, alpha‐mannosidosis, antidrug antibody, infusion‐related reactions, velmanase alfa | JIMD reports |
| The hypergonadotropic hypogonadism conundrum of classic galactosemia. | Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT | 2023-03-01 | GALT deficiency, classic galactosemia, fertility preservation, folliculogenesis signaling pathways, galactose-1-phosphate uridylyltransferase, galactosemia type 1, hypergonadotropic hypogonadism, pregnancy, premature ovarian insufficiency, subfertility | Human reproduction update |
| A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France. | Gardin A, Mussini C, Héron B, Schiff M, Brassier A, Dobbelaere D, Broué P, Sevin C, Vanier MT, Habes D, Jacquemin E, Gonzales E | 2023-03-01 | NPC1, NPC2, Niemann–Pick disease, cholestasis, liver pathology | The Journal of pediatrics |
| Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. | Cafournet C, Zanin S, Guimier A, Hully M, Assouline Z, Barcia G, de Lonlay P, Steffann J, Munnich A, Bonnefont JP, Rötig A, Ruzzenente B, Metodiev MD | 2023-02-04 | ELAC2, RNA processing, cardiomyopathy, mitochondrial disease, neurological disease | Life (Basel, Switzerland) |
| Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. | Deegan PB, Goker-Alpan O, Geberhiwot T, Hopkin RJ, Lukina E, Tylki-Szymanska A, Zaher A, Sensinger C, Gaemers SJM, Modur V, Thurberg BL, Sharma J, Najafian B, Mauer M, DasMahapatra P, Wilcox WR, Germain DP | 2023-02-01 | Fabry disease, Glycosphingolipid synthesis, Lysosomal storage disorder, Substrate reduction therapy, Venglustat | Molecular genetics and metabolism |
| High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. | Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, de la Aleja JG | 2023-02-01 | MELAS syndrome, glutamate, glutamine supplementation, mitochondrial disease | European journal of neurology |
| A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. | Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E | 2023-01-17 | Neurological disorders, Neuroscience | The Journal of clinical investigation |
| Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway. | Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD | 2023-01-05 | B12 deficiency, dried blood spot, methylmalonic acidemia, newborn screening, propionic acidemia, sensitivity, specificity | International journal of neonatal screening |
| Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. | Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E | 2023-01-01 | Anderson-Fabry disease, ECG pattern, bundle branch block, cardiac involvement, electrocardiogram (ECG), left ventricular hyperertrophy, repolarization abnormalities | Frontiers in cardiovascular medicine |
| Access to medicines for rare diseases: A European regulatory roadmap for academia. | Rosenberg N, van den Berg S, Stolwijk NN, Jacobs BAW, Post HC, Pasmooij AMG, de Visser SJ, Hollak CEM | 2023-01-01 | alternative drug-to-market routes, marketing authorization, orphan drugs, patient access, rare diseases, regulatory framework | Frontiers in pharmacology |
| An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population. | Forman EB, Lynch SA, Knerr I, Monavari A, Hughes J, Boruah R, Green A, Crushell E | 2023-01-01 | Consanguinity, Inborn errors of metabolism, Inherited metabolic disorders, Irish Travellers, Recessive disease | European journal of pediatrics |
| Maturity-onset diabetes of the young in a large Portuguese cohort. | Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH | 2023-01-01 | MODY, Molecular genetics, Monogenic diabetes, NGS | Acta diabetologica |
| Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. | Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch R, Pías-Peleteiro L, García-Cazorla Á, Barić I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM, Willemsen MAAP | 2023-01-01 | O-glucosylation, SLC2A1, next-generation metabolic screening, oligosaccharides, untargeted metabolomics | Journal of inherited metabolic disease |
| Understanding Carbohydrate Metabolism and Insulin Resistance in Acute Intermittent Porphyria. | Solares I, Jericó D, Córdoba KM, Morales-Conejo M, Ena J, Enríquez de Salamanca R, Fontanellas A | 2022-12-20 | acute intermittent porphyria, fasting, glucose homeostasis, hepatic porphyrias, insulin resistance, mitochondrial function and biogenesis | International journal of molecular sciences |
| Suspicion of Munchausen syndrome by proxy with a child's presentation of undernutrition, scurvy, and an apparent Avoidant Restrictive Food Intake Disorder. | Bertrand V, Millardet E, Bouchereau J, Dhenin C, Bruel H | 2022-12-01 | ARFID, Munchausen syndrome by proxy, Scurvy, Undernutrition | Eating and weight disorders : EWD |
| Vitamin C and folate status in hereditary fructose intolerance. | Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Chicano DM, Morales M, Pedrón-Giner C, Jáuregui EP, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Suarez MU, Miñana IV, de Las Heras J | 2022-12-01 | | European journal of clinical nutrition |
| Detailed stratified GWAS analysis for severe COVID-19 in four European populations. | Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C, Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Casalone E, Urrechaga E, Paraboschi EM, Pontali E, Reverter E, Calderón EJ, Navas E, Solligård E, Contro E, Arana-Arri E, Aziz F, Garcia F, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Kurth F, Blasi F, Malvestiti F, Medrano FJ, Mesonero F, Rodriguez-Frias F, Hanses F, Müller F, Hemmrich-Stanisak G, Bellani G, Grasselli G, Pezzoli G, Costantino G, Albano G, Cardamone G, Bellelli G, Citerio G, Foti G, Lamorte G, Matullo G, Baselli G, Kurihara H, Neb H, My I, Kurth I, Hernández I, Pink I, de Rojas I, Galván-Femenia I, Holter JC, Afset JE, Heyckendorf J, Kässens J, Damås JK, Rybniker J, Altmüller J, Ampuero J, Martín J, Erdmann J, Banales JM, Badia JR, Dopazo J, Schneider J, Bergan J, Barretina J, Walter J, Hernández Quero J, Goikoetxea J, Delgado J, Guerrero JM, Fazaal J, Kraft J, Schröder J, Risnes K, Banasik K, Müller KE, Gaede KI, Garcia-Etxebarria K, Tonby K, Heggelund L, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Sander LE, Lippert LJ, Terranova L, Nkambule L, Knopp L, Gustad LT, Garbarino L, Santoro L, Téllez L, Roade L, Ostadreza M, Intxausti M, Kogevinas M, Riveiro-Barciela M, Berger MM, Schaefer M, Niemi MEK, Gutiérrez-Stampa MA, Carrabba M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Vehreschild MJGT, Manunta M, Acosta-Herrera M, D'Angiò M, Baldini M, Cazzaniga M, Grimsrud MM, Cornberg M, Nöthen MM, Marquié M, Castoldi M, Cordioli M, Cecconi M, D'Amato M, Augustin M, Tomasi M, Boada M, Dreher M, Seilmaier MJ, Joannidis M, Wittig M, Mazzocco M, Ciccarelli M, Rodríguez-Gandía M, Bocciolone M, Miozzo M, Imaz Ayo N, Blay N, Chueca N, Montano N, Braun N, Ludwig N, Marx N, Martínez N, Cornely OA, Witzke O, Palmieri O, Faverio P, Preatoni P, Bonfanti P, Omodei P, Tentorio P, Castro P, Rodrigues PM, España PP, Hoffmann P, Rosenstiel P, Schommers P, Suwalski P, de Pablo R, Ferrer R, Bals R, Gualtierotti R, Gallego-Durán R, Nieto R, Carpani R, Morilla R, Badalamenti S, Haider S, Ciesek S, May S, Bombace S, Marsal S, Pigazzini S, Klein S, Pelusi S, Wilfling S, Bosari S, Volland S, Brunak S, Raychaudhuri S, Schreiber S, Heilmann-Heimbach S, Aliberti S, Ripke S, Dudman S, Wesse T, Zheng T, Bahmer T, Eggermann T, Illig T, Brenner T, Pumarola T, Feldt T, Folseraas T, Gonzalez Cejudo T, Landmesser U, Protzer U, Hehr U, Rimoldi V, Monzani V, Skogen V, Keitel V, Kopfnagel V, Friaza V, Andrade V, Moreno V, Albrecht W, Peter W, Poller W, Farre X, Yi X, Wang X, Khodamoradi Y, Karadeniz Z, Latiano A, Goerg S, Bacher P, Koehler P, Tran F, Zoller H, Schulte EC, Heidecker B, Ludwig KU, Fernández J, Romero-Gómez M, Albillos A, Invernizzi P, Buti M, Duga S, Bujanda L, Hov JR, Lenz TL, Asselta R, de Cid R, Valenti L, Karlsen TH, Cáceres M, Franke A | 2022-11-28 | | Human molecular genetics |
| Proteomics in Inherited Metabolic Disorders. | Chantada-Vázquez MDP, Bravo SB, Barbosa-Gouveia S, Alvarez JV, Couce ML | 2022-11-25 | biomarkers, enzyme replacement therapy, inborn errors of metabolism, lysosomal disorders, proteomics | International journal of molecular sciences |
| Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. | Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G | 2022-11-21 | exercise intolerance, hyperCKaemia, myalgia, obscurin, rhabdomyolysis | Brain : a journal of neurology |
| Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. | François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, Espil C, Fluss J, de Lonlay P, Kern I, Lenaers G, Munnich A, Meyer P, Spitz MA, Torre S, Doummar D, Touati G, Leboucq N, Roubertie A | 2022-11-01 | ECHS1, HIBCH, dystonia, inherited metabolic disease | European journal of neurology |
| A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. | Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL | 2022-11-01 | POI, S135L variant, acute symptoms, galactosemia, long-term outcomes, neurocognitive outcomes, speech delay | Journal of inherited metabolic disease |
| Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders. | Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Palacios NJ, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Fragua RV, Gómez T, Fortuny OA, Jiménez IG, Laso EL, Martínez AR, López JM, Garcia-Cazorla À | 2022-11-01 | Amino acids, Brain volumetric study, Inherited neurotransmitter disorders, Monoamines, Neuroimaging, Volumetric deficit | Neuroradiology |
| Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns. | Martín-Rivada Á, Cambra Conejero A, Martín-Hernández E, Moráis López A, Bélanger-Quintana A, Cañedo Villarroya E, Quijada-Fraile P, Bellusci M, Chumillas Calzada S, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruíz-Sala P, Ugarte M, Pérez González B, Pedrón-Giner C | 2022-10-26 | inborn error of metabolism, methymalonic acidemia, neonatal screening, propionic acidemia, tandem mass spectrometry, vitamin B12 | Journal of pediatric endocrinology & metabolism : JPEM |
| Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism. | Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B | 2022-10-25 | allelic expression imbalance, differential gene expression, inherited metabolic disorders, multi-omics, targeted transcriptomics | International journal of molecular sciences |
| Clonal hematopoiesis is not significantly associated with COVID-19 disease severity. | Zhou Y, Shalhoub R, Rogers SN, Yu S, Gu M, Fabre MA, Quiros PM, Shin TH, Diangson A, Deng W, Anand S, Lu W, Cullen M, Godfrey AL, Preller J, Hadjadj J, Jouanguy E, Cobat A, Abel L, Rieux-Laucat F, Terrier B, Fischer A, Novik L, Gordon IJ, Strom L, Gaudinski MR, Lisco A, Sereti I, Gniadek TJ, Biondi A, Bonfanti P, Imberti L, Dalgard CL, Zhang Y, Dobbs K, Su HC, Notarangelo LD, Wu CO, Openshaw PJM, Semple MG, Mallat Z, Baillie K, Dunbar CE, Vassiliou GS | 2022-10-06 | | Blood |
| Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB. | Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E | 2022-10-01 | Sanfilippo syndrome Type III, adaptive behavior, cognition, natural history, organ MRI | The Journal of pediatrics |
| The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients. | Moiseev S, Tao E, Moiseev A, Bulanov N, Filatova E, Fomin V, Germain DP | 2022-09-09 | Fabry disease, cascade genotyping, early diagnosis, family screening, rare diseases | Genes |
| Galactose epimerase deficiency: lessons from the GalNet registry. | Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME | 2022-09-02 | Galactose epimerase deficiency, Galactose-restricted diet, Galactosemia type III, Galactosemias Network | Orphanet journal of rare diseases |
| Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. | Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC | 2022-09-01 | Adolescent, Consensus recommendations, Modified Delphi, PKU, Phenylketonuria, Young adult | Molecular genetics and metabolism |
| An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. | Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A | 2022-09-01 | Chaperone therapy, Chronic kidney disease, Enzyme replacement therapy, Fabry disease, Left ventricular hypertrophy, Therapeutic goal | Molecular genetics and metabolism |
| MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance. | da Silva Santos T, Fonseca L, Santos Monteiro S, Borges Duarte D, Martins Lopes A, Couto de Carvalho A, Oliveira MJ, Borges T, Laranjeira F, Couce ML, Cardoso MH | 2022-09-01 | MODY, genetic testing, probability | Endocrinology, diabetes & metabolism |
| N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity. | Pascreau T, Saller F, Bianchini EP, Lasne D, Bruneel A, Reperant C, Foulquier F, Denis CV, De Lonlay P, Borgel D | 2022-09-01 | | Thrombosis and haemostasis |
| Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain. | Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M | 2022-08-28 | clinical practice, glycerol phenylbutyrate (GPB), sodium benzoate (NaBZ), sodium phenylbutyrate (NaPB), urea cycle disorders (UCDs) | Journal of clinical medicine |
| Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19. | Carmona-Rivera C, Zhang Y, Dobbs K, Markowitz TE, Dalgard CL, Oler AJ, Claybaugh DR, Draper D, Truong M, Delmonte OM, Licciardi F, Ramenghi U, Crescenzio N, Imberti L, Sottini A, Quaresima V, Fiorini C, Discepolo V, Lo Vecchio A, Guarino A, Pierri L, Catzola A, Biondi A, Bonfanti P, Poli Harlowe MC, Espinosa Y, Astudillo C, Rey-Jurado E, Vial C, de la Cruz J, Gonzalez R, Pinera C, Mays JW, Ng A, Platt A, Drolet B, Moon J, Cowen EW, Kenney H, Weber SE, Castagnoli R, Magliocco M, Stack MA, Montealegre G, Barron K, Fink DL, Kuhns DB, Hewitt SM, Arkin LM, Chertow DS, Su HC, Notarangelo LD, Kaplan MJ | 2022-08-22 | Infectious disease, Inflammation, Neutrophils | JCI insight |
| Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia. | Kuseyri Hübschmann O, Juliá-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortès-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T, García-Cazorla Á | 2022-08-01 | | Annals of neurology |
| Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy. | Juliá-Palacios N, Molina-Anguita C, Sigatulina Bondarenko M, Cortès-Saladelafont E, Aparicio J, Cuadras D, Horvath G, Fons C, Artuch R, García-Cazorla À | 2022-07-01 | | Developmental medicine and child neurology |
| Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients. | Healy L, O'Shea M, McNulty J, King G, Twomey E, Treacy E, Crushell E, Hughes J, Knerr I, Monavari AA | 2022-07-01 | gluatric aciduria type 1, high‐excretor, high‐risk screen, low‐excretor, newborn screening, retrospective analysis | JIMD reports |
| The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1. | Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B | 2022-07-01 | GLUT1, GLUT1DS, SLC2A1, hypoglycorrhachia | Clinical genetics |
| Genetic disorders of cellular trafficking. | García-Cazorla A, Oyarzábal A, Saudubray JM, Martinelli D, Dionisi-Vici C | 2022-07-01 | autophagy, cellular trafficking, inherited metabolic diseases, membrane contact sites, vesicular trafficking | Trends in genetics : TIG |
| Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study. | Sestito S, Rinninella G, Rampazzo A, D'Avanzo F, Zampini L, Santoro L, Gabrielli O, Fiumara A, Barone R, Volpi N, Scarpa M, Tomanin R, Concolino D | 2022-06-29 | Enzyme replacement therapy (ERT), Glycosaminoglycans (GAGs), Heart involvement, Mucopolysaccharidoses (MPS), Valvulopathies | Orphanet journal of rare diseases |
| Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. | Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R | 2022-06-20 | Agalsidase alfa, Cardiovascular outcomes, Enzyme replacement therapy, Fabry disease, Renal outcomes | Orphanet journal of rare diseases |
| Reply to: Hultström et al., Genetic determinants of mannose-binding lectin activity predispose to thromboembolic complications in critical COVID-19. Mannose-binding lectin genetics in COVID-19. | Asselta R, Paraboschi EM, Stravalaci M, Invernizzi P, Bonfanti P, Biondi A, Pagani I, Pedotti M, Doni A, Scavello F, Mapelli SN, Sironi M, Perucchini C, Varani L, Matkovic M, Cavalli A, Cesana D, Gallina P, Pedemonte N, Capurro V, Clementi N, Mancini N, Bayarri-Olmos R, Garred P, Rappuoli R, Duga S, Bottazzi B, Uguccioni M, Vicenzi E, Mantovani A, Garlanda C | 2022-06-01 | | Nature immunology |
| Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome. | Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, González de la Aleja J | 2022-06-01 | Branched-chain amino acids, Glutamate, Glutamine, MELAS, Mitochondrial disease | Journal of neurology |
| The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. | Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang SY, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Casanova JL, Abel L, Cobat A | 2022-05-24 | COVID-19, autoantibodies, infection fatality rate, relative risk, type I IFNs | Proceedings of the National Academy of Sciences of the United States of America |
| Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases. | Alcaide P, Ferrer-López I, Gutierrez L, Leal F, Martín-Hernández E, Quijada-Fraile P, Bellusci M, Moráis A, Pedrón-Giner C, Rausell D, Correcher P, Unceta M, Stanescu S, Ugarte M, Ruiz-Sala P, Pérez B | 2022-05-23 | acylcarnitines, fatty acid oxidation, lymphocyte enzyme activity, medium-chain acyl-CoA dehydrogenase, newborn screening | Journal of clinical medicine |
| Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study. | Alili JM, Berleur MP, Husson MC, Mention K, Schiff M, Arnoux JB, Brassier A, Guemman AS, Grisel C, Dubois S, Abi-Wardé MT, Broissand C, Servais A, Dao M, de Lonlay P | 2022-05-16 | Branched-chain amino acid-free formula, Decompensation, Intravenous, Maple syrup urine disease, Treatment | Orphanet journal of rare diseases |
| Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. | Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML | 2022-05-12 | Phenomizer, myopathy, neuromuscular disorders, next-generation sequencing | Journal of clinical medicine |
| Towards Achieving Equity and Innovation in Newborn Screening across Europe. | Sikonja J, Groselj U, Scarpa M, la Marca G, Cheillan D, Kölker S, Zetterström RH, Kožich V, Le Cam Y, Gumus G, Bottarelli V, van der Burg M, Dekkers E, Battelino T, Prevot J, Schielen PCJI, Bonham JR | 2022-05-06 | Europe, NBS, Slovenia, access inequality, meeting, newborn screening, rare diseases | International journal of neonatal screening |
| Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19. | Sacco K, Castagnoli R, Vakkilainen S, Liu C, Delmonte OM, Oguz C, Kaplan IM, Alehashemi S, Burbelo PD, Bhuyan F, de Jesus AA, Dobbs K, Rosen LB, Cheng A, Shaw E, Vakkilainen MS, Pala F, Lack J, Zhang Y, Fink DL, Oikonomou V, Snow AL, Dalgard CL, Chen J, Sellers BA, Montealegre Sanchez GA, Barron K, Rey-Jurado E, Vial C, Poli MC, Licari A, Montagna D, Marseglia GL, Licciardi F, Ramenghi U, Discepolo V, Lo Vecchio A, Guarino A, Eisenstein EM, Imberti L, Sottini A, Biondi A, Mató S, Gerstbacher D, Truong M, Stack MA, Magliocco M, Bosticardo M, Kawai T, Danielson JJ, Hulett T, Askenazi M, Hu S, Cohen JI, Su HC, Kuhns DB, Lionakis MS, Snyder TM, Holland SM, Goldbach-Mansky R, Tsang JS, Notarangelo LD | 2022-05-01 | | Nature medicine |
| Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis. | Vázquez-Mosquera ME, González-Vioque E, Barbosa-Gouveia S, Bellido-Guerrero D, Tejera-Pérez C, Martinez-Olmos MA, Fernández-Pombo A, Castaño-González LA, Chans-Gerpe R, Couce ML | 2022-03-04 | Gene expression, Maturity-onset diabetes of the young (MODY), Nanostring nCounter techonology, Transcriptomic diagnosis | Orphanet journal of rare diseases |
| One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN. | Paneghetti L, Bellettato CM, Sechi A, Stepien KM, Scarpa M | 2022-03-04 | COVID-19, IMDs, Inherited metabolic disorders, SARS-CoV-2 | Orphanet journal of rare diseases |
| Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19. | Carmona-Rivera C, Zhang Y, Dobbs K, Markowitz TE, Dalgard CL, Oler AJ, Claybaugh DR, Draper D, Truong M, Delmonte OM, Licciardi F, Ramenghi U, Crescenzio N, Imberti L, Sottini A, Quaresima V, Fiorini C, Discepolo V, Lo Vecchio A, Guarino A, Pierri L, Catzola A, Biondi A, Bonfanti P, Poli Harlowe MC, Espinosa Y, Astudillo C, Rey-Jurado E, Vial C, de la Cruz J, Gonzalez R, Pinera C, Mays JW, Ng A, Platt A, Drolet B, Moon J, Cowen EW, Kenney H, Weber SE, Castagnoli R, Magliocco M, Stack MA, Montealegre G, Barron K, Hewitt SM, Arkin LM, Chertow DS, Su HC, Notarangelo LD, Kaplan MJ | 2022-03-03 | | medRxiv : the preprint server for health sciences |
| Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region. | Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C | 2022-03-01 | inborn error of metabolism, neonatal screening, tandem mass spectrometry | JIMD reports |
| Cognitive stimulation has potential for brain activation in individuals with Rett syndrome. | Migliorelli C, Medina-Rivera I, Bachiller A, Tost A, Alonso JF, López-Sala A, Armstrong J, O'Callahan MDM, Pineda M, Mañanas MA, Romero S, García-Cazorla Á | 2022-03-01 | Brain Symmetry Index, Rett syndrome, cognitive stimulation, electroencephalography (EEG), eye-tracking | Journal of intellectual disability research : JIDR |
| Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe. | Scarpa M, Bonham JR, Dionisi-Vici C, Prevot J, Pergent M, Meyts I, Mahlaoui N, Schielen PCJI | 2022-02-01 | | The Lancet regional health. Europe |
| Editorial: NGS technologies of rare diseases diagnosis. | Couce ML, González-Vioque E | 2022-01-01 | DNA SEQUENCING, exome sequencing, genome sequencing, transcriptome, variants | Frontiers in pediatrics |
| Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity. | Guerra F, L'Imperio V, Bonanomi S, Spinelli M, Coliva TA, Dell'Acqua F, Ferrari GM, Corti P, Balduzzi A, Biondi A, Pagni F, Saettini F | 2022-01-01 | autoimmune myelofibrosis, bone marrow, inborn errors of immunity, myelofibrosis, pediatric immune myelofibrosis, reticulin fibrosis | Frontiers in pediatrics |
| Long pentraxin 3 (PTX3) levels predict death, intubation and thrombotic events among hospitalized patients with COVID-19. | Lapadula G, Leone R, Bernasconi DP, Biondi A, Rossi E, D'Angiò M, Bottazzi B, Bettini LR, Beretta I, Garlanda C, Valsecchi MG, Mantovani A, Bonfanti P | 2022-01-01 | COVID - 19, SARS – CoV – 2, inflammation, mortality, pentraxin 3 (PTX3) | Frontiers in immunology |
| Editorial: Risk and preventive factors in necrotizing enterocolitis and its complications in premature infants. | Couce ML | 2022-01-01 | amniotic fluid, enteral nutrition, intestinal perforation, prematurity, surgery | Frontiers in pediatrics |
| Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease. | Sánchez-Pintos P, Meavilla S, López-Ramos MG, García-Cazorla Á, Couce ML | 2022-01-01 | MSUD, dietary treatment, intravenous branched-chain amino acid-free formula, metabolic decompensation, metabolic emergency treatment | Frontiers in pediatrics |
| Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome. | Saettini F, Coliva TA, Vendemini F, Galbiati M, Bugarin C, Masetti R, Moratto D, Chiarini M, Guerra F, Iascone M, Badolato R, Cazzaniga G, Niemeyer C, Flotho C, Biondi A | 2022-01-01 | ALPS, BENTA, CARD11, CBL, RALD, RASopathies, lymphocytosis, splenomegaly | Frontiers in pediatrics |
| The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy. | Wiesinger AM, Bigger B, Giugliani R, Scarpa M, Moser T, Lampe C, Kampmann C, Lagler FB | 2022-01-01 | MPS, cytopathology, drug discovery, immunomodulation, inflammation, mucopolysaccharidoses | Frontiers in pharmacology |
| The LINCE Project: A Pathway for Diagnosing NCL2 Disease. | Rodrigues D, de Castro MJ, Crujeiras P, Duat-Rodriguez A, Marco AV, Del Toro M, Couce ML, Colón C | 2022-01-01 | NCL2 disease, dried blood spot, early diagnosis, enzymatic activity, screening tripeptidyl peptidase 1 | Frontiers in pediatrics |
| Association Between Sex Hormone Levels and Clinical Outcomes in Patients With COVID-19 Admitted to Hospital: An Observational, Retrospective, Cohort Study. | Beltrame A, Salguero P, Rossi E, Conesa A, Moro L, Bettini LR, Rizzi E, D'Angió M, Deiana M, Piubelli C, Rebora P, Duranti S, Bonfanti P, Capua I, Tarazona S, Valsecchi MG | 2022-01-01 | ARDS, COVID-19, estradiol, outcome, severity, sex hormones, testosterone | Frontiers in immunology |
| Maturation signatures of conventional dendritic cell subtypes in COVID-19 suggest direct viral sensing. | Marongiu L, Protti G, Facchini FA, Valache M, Mingozzi F, Ranzani V, Putignano AR, Salviati L, Bevilacqua V, Curti S, Crosti M, Sarnicola ML, D'Angiò M, Bettini LR, Biondi A, Nespoli L, Tamini N, Clementi N, Mancini N, Abrignani S, Spreafico R, Granucci F | 2022-01-01 | COVID-19, dendritic cells, single cell transcriptomics | European journal of immunology |
| Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. | Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML | 2021-12-15 | Sengers syndrome, acylglycerol kinase, mitochondrial ATP generation, mitochondrial dysfunction, oxidative phosphorylation machinery | International journal of molecular sciences |
| Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective. | Pinto C, Sousa D, Ghilas V, Dardis A, Scarpa M, Macedo MF | 2021-11-28 | Niemann–Pick, acid sphingomyelinase deficiency, immune, lysosomal storage disease, sphingomyelinase | International journal of molecular sciences |
| Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1. | Koehorst E, Núñez-Manchón J, Ballester-López A, Almendrote M, Lucente G, Arbex A, Chojnacki J, Vázquez-Manrique RP, Gómez-Escribano AP, Pintos-Morell G, Coll-Cantí J, Ramos-Fransi A, Martínez-Piñeiro A, Suelves M, Nogales-Gadea G | 2021-11-25 | RAN translation, antisense transcription, myotonic dystrophies, phenotypic modulators, primary cell cultures | Journal of clinical medicine |
| Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department. | Solares I, Heredia-Mena C, Castelbón FJ, Jericó D, Córdoba KM, Fontanellas A, Enríquez de Salamanca R, Morales-Conejo M | 2021-11-19 | acute porphyrias, inborn errors of metabolism, mitochondrial disease, urea cycle disorders | Diagnostics (Basel, Switzerland) |
| Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. | Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M | 2021-11-03 | Elosulfase alfa, Health-related quality of life, Mobility, Morquio A syndrome, Mucopolysaccharidosis IVA | Orphanet journal of rare diseases |
| Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency. | Bellusci M, García-Silva MT, Martínez de Aragón A, Martín MA | 2021-11-01 | PDSS1, coenzyme Q10, cutaneous, erythema, mitochondria, phalangeal | JIMD reports |
| Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. | Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S | 2021-11-01 | | Annals of clinical and translational neurology |
| Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C. | Cervera Bravo A, Osuna Marco MP, Morán-Jiménez MJ, Martín-Hernández E | 2021-11-01 | | Journal of pediatric hematology/oncology |
| Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. | Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J | 2021-10-27 | burden of disease, dietary treatment, glycogen storage disease type Ia, long-term complications, quality of life, uncooked cornstarch, unmet need | Nutrients |
| Bone Mineralization and Calcium Phosphorus Metabolism. | Couce ML, Saenz de Pipaon M | 2021-10-21 | | Nutrients |
| Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. | Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ | 2021-10-04 | | The Journal of experimental medicine |
| A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net. | Rossi A, Hoogeveen IJ, Lubout CMA, de Boer F, Fokkert-Wilts MJ, Rodenburg IL, van Dam E, Grünert SC, Martinelli D, Scarpa M, Dekker H, Te Boekhorst ST, van Spronsen FJ, Derks TGJ | 2021-09-01 | eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicine | Journal of inherited metabolic disease |
| Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art. | de Castro MJ, Del Toro M, Giugliani R, Couce ML | 2021-08-25 | adeno-associated virus, blood brain barrier, central nervous system, gene therapy, lentivirus, mucopolysaccharidoses, viral vectors | International journal of molecular sciences |
| Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center. | Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML | 2021-08-19 | differential diagnosis, genetic diagnosis, inborn errors of metabolism | Genes |
| X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. | Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL, Bustamante J, Puel A, Boisson-Dupuis S, Zhang SY, Béziat V, Lifton RP, Bastard P, Notarangelo LD, Abel L, Su HC, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova JL | 2021-08-19 | | Science immunology |
| Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. | Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Anderson MS, Boisson B, Béziat V, Zhang SY, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen TH, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen PK, Piemonti L, Rodríguez-Gallego C, Notarangelo LD, Su HC, Kisand K, Okada S, Puel A, Jouanguy E, Rice CM, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova JL | 2021-08-19 | | Science immunology |
| Choosing Strategies to Deal with Artifactual EEG Data in Children with Cognitive Impairment. | Tost A, Migliorelli C, Bachiller A, Medina-Rivera I, Romero S, García-Cazorla Á, Mañanas MA | 2021-08-11 | Rett Syndrome (RTT), accelerometer, artifact detection, data distribution, electroencephalography (EEG), energy function | Entropy (Basel, Switzerland) |
| Social and medical needs of rare metabolic patients: results from a MetabERN survey. | Sestini S, Paneghetti L, Lampe C, Betti G, Bond S, Bellettato CM, Maurizio S | 2021-08-03 | IMDs, Inherited metabolic diseases, Psychological support, Rare diseases, Social services | Orphanet journal of rare diseases |
| Novel molecular targeted therapies for patients with neurofibromatosis type 1 with inoperable plexiform neurofibromas: a comprehensive review. | Solares I, Viñal D, Morales-Conejo M, Rodriguez-Salas N, Feliu J | 2021-08-01 | molecular targeted therapy, neoplasms, neurofibromatosis type 1, plexiform neurofibromas | ESMO open |
| Energy metabolism in childhood neurodevelopmental disorders. | A O, U M, Lf B, A GC | 2021-07-01 | Autism, Brain energy metabolism, Inborn errors of energy metabolism, Neurodevelopment, Rett syndrome | EBioMedicine |
| Acute intermittent porphyria, givosiran, and homocysteine. | Fontanellas A, Ávila MA, Arranz E, Enríquez de Salamanca R, Morales-Conejo M | 2021-07-01 | | Journal of inherited metabolic disease |
| Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study. | Spiekerkoetter U, Couce ML, Das AM, de Laet C, Dionisi-Vici C, Lund AM, Schiff M, Spada M, Sparve E, Szamosi J, Vara R, Rudebeck M | 2021-07-01 | | The lancet. Diabetes & endocrinology |
| Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance. | Cano A, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Chumillas-Calzada S, Correcher P, Couce ML, García-Arenas D, Gómez I, Hernández T, Izquierdo-García E, Martínez Chicano D, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Vitoria Miñana I, de Las Heras J | 2021-06-30 | aldolase B, biomarker, diet, fructose, hereditary fructose intolerance, sialotransferrin profile, sorbitol, sucrose | Journal of clinical medicine |
| Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism. | de Castro MJ, Sánchez-Pintos P, Abdelaziz-Salem N, Leis R, Couce ML | 2021-06-20 | DEXA, body mass index, bone mineral density, disorders of the intermediary metabolism, height, osteopenia | Nutrients |
| Plasma Proteomic Analysis in Morquio A Disease. | Álvarez JV, Bravo SB, Chantada-Vázquez MP, Barbosa-Gouveia S, Colón C, López-Suarez O, Tomatsu S, Otero-Espinar FJ, Couce ML | 2021-06-07 | biomarkers, enzyme replacement therapy, lysosomal disorders, proteomics | International journal of molecular sciences |
| Treatment adherence in tyrosinemia type 1 patients. | González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L | 2021-06-03 | Adherence, Diet, Nitisinone, Tyrosinemia type 1 | Orphanet journal of rare diseases |
| Human Milk Concentrations of Minerals, Essential and Toxic Trace Elements and Association with Selective Medical, Social, Demographic and Environmental Factors. | Mandiá N, Bermejo-Barrera P, Herbello P, López-Suárez O, Fraga JM, Fernández-Pérez C, Couce ML | 2021-05-31 | breast milk, infant milk formula, minerals, newborn, preterm, toxic metals, trace elements | Nutrients |
| Long-term renal outcome in methylmalonic acidemia in adolescents and adults. | Dao M, Arnoux JB, Bienaimé F, Brassier A, Brazier F, Benoist JF, Pontoizeau C, Ottolenghi C, Krug P, Boyer O, de Lonlay P, Servais A | 2021-05-13 | Chronic kidney disease, Estimated glomerular filtration rate, Measured glomerular filtration rate, Methylmalonic acidemia, Tubulopathy | Orphanet journal of rare diseases |
| The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease. | Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S | 2021-05-01 | Fabry disease, at-risk populations screening, cascade genotyping, early diagnosis, family genetic testing, pedigree drawing, rare disease | Molecular genetics & genomic medicine |
| Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease. | Abasolo I, Seras-Franzoso J, Moltó-Abad M, Díaz-Riascos V, Corchero JL, Pintos-Morell G, Schwartz S | 2021-05-01 | Fabry disease, enzyme replacement therapy, lysosomal storage disorders, nanomedicine | Wiley interdisciplinary reviews. Nanomedicine and nanobiotechnology |
| Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data. | Molema F, Martinelli D, Hörster F, Kölker S, Tangeraas T, de Koning B, Dionisi-Vici C, Williams M | 2021-05-01 | MetabERN, amino acid and organic acid diseases, development, inborn errors of metabolism, morbidity, mortality, quality of life, solid organ transplantation | Journal of inherited metabolic disease |
| European Reference Networks: challenges and opportunities. | Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N | 2021-04-01 | | Journal of community genetics |
| High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach. | Solares I, Izquierdo-Sánchez L, Morales-Conejo M, Jericó D, Castelbón FJ, Córdoba KM, Sampedro A, Lumbreras C, Moreno-Aliaga MJ, Enríquez de Salamanca R, Berraondo P, Fontanellas A | 2021-03-05 | acute intermittent porphyria, carbohydrate loading therapy, experimental liver-targeted insulin, fast-acting insulin, hyperinsulinemia, insulin resistance | Biomedicines |
| Extracellular vesicles from recombinant cell factories improve the activity and efficacy of enzymes defective in lysosomal storage disorders. | Seras-Franzoso J, Díaz-Riascos ZV, Corchero JL, González P, García-Aranda N, Mandaña M, Riera R, Boullosa A, Mancilla S, Grayston A, Moltó-Abad M, Garcia-Fruitós E, Mendoza R, Pintos-Morell G, Albertazzi L, Rosell A, Casas J, Villaverde A, Schwartz S, Abasolo I | 2021-03-01 | Fabry disease, N‐sulfoglucosamine sulfohydrolase, Sanfilippo syndrome, alpha‐galactosidase A, drug delivery, enzyme replacement therapy, lysosomal storage disorders | Journal of extracellular vesicles |
| Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort. | Bérat CM, Roda C, Brassier A, Bouchereau J, Wicker C, Servais A, Dubois S, Assoun M, Belloche C, Barbier V, Leboeuf V, Petit FM, Gaignard P, Lebigot E, Bérat PJ, Pontoizeau C, Touati G, Talbotec C, Campeotto F, Ottolenghi C, Arnoux JB, de Lonlay Pascale P | 2021-03-01 | | Molecular genetics and metabolism reports |
| Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. | Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B | 2021-03-01 | | European journal of human genetics : EJHG |
| Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity. | Tristán-Noguero A, Borràs E, Molero-Luis M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch R, Sabidó E, García-Cazorla À | 2021-03-01 | biomarkers, cerebrospinal fluid, early parkinsonism, neurotransmitters, proteomics | Movement disorders : official journal of the Movement Disorder Society |
| [The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).]. | González-Lamuño Leguina D, Bóveda Fontán MD, Bueno Delgado M, Gort Mas L, Unceta Suárez M, Morales Conejo M | 2021-01-26 | Inborn errors of metabolism, Newborn screening, Prevention, Public Health, Spain | Revista espanola de salud publica |
| Screen Time and Bone Status in Children and Adolescents: A Systematic Review. | de Lamas C, Sánchez-Pintos P, José de Castro M, Sáenz de Pipaon M, Couce ML | 2021-01-01 | bone mineral density, bone turnover, computer, mobile phone, screen, tablets | Frontiers in pediatrics |
| Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey. | Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M | 2021-01-01 | adult metabolic patient, adulthood (18 years and older), challenge, continuity of care, inherited metabolic disease(s), rare disease, transition process | Frontiers in medicine |
| Galactokinase deficiency: lessons from the GalNet registry. | Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT | 2021-01-01 | GALK1 gene variants; neonatal complications, cataract; galactosemias registry, galactokinase 1 deficiency | Genetics in medicine : official journal of the American College of Medical Genetics |
| Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA. | Álvarez VJ, Bravo SB, Chantada-Vazquez MP, Colón C, De Castro MJ, Morales M, Vitoria I, Tomatsu S, Otero-Espinar FJ, Couce ML | 2020-12-28 | biomarkers, enzyme replacement therapy, lysosomal disorders, proteomics | International journal of molecular sciences |
| MiRNA Expression in Patients with Gaucher Disease Treated with Enzyme Replacement Therapy. | Pawliński Ł, Polus A, Tobór E, Sordyl M, Kopka M, Solnica B, Kieć-Wilk B | 2020-12-22 | Gaucher disease, biomarkers, inflammation, miRNA | Life (Basel, Switzerland) |
| [Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]. | Cambra Conejero A, Martínez Figueras L, Ortiz Temprado A, Blanco Soto P, Martín Rivada Á, Palomino Pérez L, Cañedo Villarroya E, Pedrón Giner C, Quijada Fraile P, Martín-Hernández E, García Silva MT, Chumillas Calzada S, Bellusci M, Belanger-Quintana A, Stanescu S, Martínez-Pardo Casanova M, Moráis López A, Bergua Martínez A, Ruiz-Salas P, Pérez González B, Ugarte M, Ruano MLF | 2020-12-16 | Expanded newborn screening, False positive, Inborn errors of metabolism, Spain, Tandem mass spectrometry | Revista espanola de salud publica |
| The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. | Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Bond S, Brown C, Finglas A, Francisco R, Sestini S, Heard JM, Scarpa M | 2020-12-03 | COVID-19, Coronavirus, IMD, Inherited metabolic diseases, Pandemic, Rare diseases, SARS-CoV-2, Survey | Orphanet journal of rare diseases |
| Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome. | García-Cazorla À, Verdura E, Juliá-Palacios N, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch R, Cousin MA, Pujol A | 2020-12-01 | Cardiomyopathy, Congenital microcephaly, Mitochondrial one-carbon metabolism, Perisylvian polymicrogyria, SHMT2 | Acta neuropathologica |
| Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. | Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, García-Cazorla À, Juliá-Palacios N, Morales-Ballús M | 2020-12-01 | TELO2, You-Hoover-Fong syndrome, developmental delay, microcephaly, pediatric cataract | Ophthalmic genetics |
| NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient. | Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Ribeiro I, Chaves P, Santos JI, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S | 2020-11-01 | NPC1, Niemann-Pick type C, RNA-seq, exon skipping, silent variant, unfolded protein response | Molecular genetics & genomic medicine |
| Autoantibodies against type I IFNs in patients with life-threatening COVID-19. | Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J, Tsang JS, Goldbach-Mansky R, Kisand K, Lionakis MS, Puel A, Zhang SY, Holland SM, Gorochov G, Jouanguy E, Rice CM, Cobat A, Notarangelo LD, Abel L, Su HC, Casanova JL | 2020-10-23 | | Science (New York, N.Y.) |
| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. | Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D'Angio' M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow AL, Dalgard CL, Milner JD, Vinh DC, Mogensen TH, Marr N, Spaan AN, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli MJ, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton RP, Zhang SY, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice CM, Abel L, Notarangelo LD, Cobat A, Su HC, Casanova JL | 2020-10-23 | | Science (New York, N.Y.) |
| Genomewide Association Study of Severe Covid-19 with Respiratory Failure. | Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J, Prati D, Baselli G, Asselta R, Grimsrud MM, Milani C, Aziz F, Kässens J, May S, Wendorff M, Wienbrandt L, Uellendahl-Werth F, Zheng T, Yi X, de Pablo R, Chercoles AG, Palom A, Garcia-Fernandez AE, Rodriguez-Frias F, Zanella A, Bandera A, Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Gori A, Tanck A, Carreras Nolla A, Latiano A, Fracanzani AL, Peschuck A, Julià A, Pesenti A, Voza A, Jiménez D, Mateos B, Nafria Jimenez B, Quereda C, Paccapelo C, Gassner C, Angelini C, Cea C, Solier A, Pestaña D, Muñiz-Diaz E, Sandoval E, Paraboschi EM, Navas E, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, Blasi F, Téllez L, Blanco-Grau A, Hemmrich-Stanisak G, Grasselli G, Costantino G, Cardamone G, Foti G, Aneli S, Kurihara H, ElAbd H, My I, Galván-Femenia I, Martín J, Erdmann J, Ferrusquía-Acosta J, Garcia-Etxebarria K, Izquierdo-Sanchez L, Bettini LR, Sumoy L, Terranova L, Moreira L, Santoro L, Scudeller L, Mesonero F, Roade L, Rühlemann MC, Schaefer M, Carrabba M, Riveiro-Barciela M, Figuera Basso ME, Valsecchi MG, Hernandez-Tejero M, Acosta-Herrera M, D'Angiò M, Baldini M, Cazzaniga M, Schulzky M, Cecconi M, Wittig M, Ciccarelli M, Rodríguez-Gandía M, Bocciolone M, Miozzo M, Montano N, Braun N, Sacchi N, Martínez N, Özer O, Palmieri O, Faverio P, Preatoni P, Bonfanti P, Omodei P, Tentorio P, Castro P, Rodrigues PM, Blandino Ortiz A, de Cid R, Ferrer R, Gualtierotti R, Nieto R, Goerg S, Badalamenti S, Marsal S, Matullo G, Pelusi S, Juzenas S, Aliberti S, Monzani V, Moreno V, Wesse T, Lenz TL, Pumarola T, Rimoldi V, Bosari S, Albrecht W, Peter W, Romero-Gómez M, D'Amato M, Duga S, Banales JM, Hov JR, Folseraas T, Valenti L, Franke A, Karlsen TH | 2020-10-15 | | The New England journal of medicine |
| Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontology. | Prieto-González D, Castilla-Rodríguez I, González E, Couce ML | 2020-10-01 | Decision tree, Economic assessment, Ontology, Rare diseases, Simulation | Journal of biomedical informatics |
| Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels. | Snyder TM, Gittelman RM, Klinger M, May DH, Osborne EJ, Taniguchi R, Zahid HJ, Kaplan IM, Dines JN, Noakes MT, Pandya R, Chen X, Elasady S, Svejnoha E, Ebert P, Pesesky MW, De Almeida P, O'Donnell H, DeGottardi Q, Keitany G, Lu J, Vong A, Elyanow R, Fields P, Greissl J, Baldo L, Semprini S, Cerchione C, Nicolini F, Mazza M, Delmonte OM, Dobbs K, Laguna-Goya R, Carreño-Tarragona G, Barrio S, Imberti L, Sottini A, Quiros-Roldan E, Rossi C, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Tompkins MF, Alba C, Dalgard C, Sambri V, Martinelli G, Goldman JD, Heath JR, Su HC, Notarangelo LD, Paz-Artal E, Martinez-Lopez J, Carlson JM, Robins HS | 2020-09-17 | | medRxiv : the preprint server for health sciences |
| Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL. | Barbosa-Gouveia S, González-Vioque E, Hermida Á, Suarez MU, Martínez-González MJ, Borges F, Wintjes L, Kappen A, Rodenburg R, Couce ML | 2020-09-02 | EARS2, LTBL, aminoacyl-tRNA synthetases, mitochondrial disorders | Genes |
| Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. | Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O | 2020-08-05 | | Orphanet journal of rare diseases |
| Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy? | Azevedo O, Marques N, Reis L, Cruz I, Craveiro N, Antunes H, Lourenço C, Gomes R, Guerreiro RA, Faria R, Sá F, Lima R, Gaspar P, Faria R, Miltenberger-Miltenyi G, Sousa N, Cunha D | 2020-08-01 | | American heart journal |
| Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease. | de Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Rite S, López-Suárez O, Pérez-Muñuzuri A, Couce ML | 2020-07-23 | critically ill newborn, genetic diagnosis, genomic sequencing, trio sequencing | Journal of clinical medicine |
| Perioperative management of children with urea cycle disorders. | Del Río C, Martín-Hernández E, Ruiz A, Quijada-Fraile P, Rubio P | 2020-07-01 | anesthesia, child, hyperammonemia, perioperative period, urea cycle, vomiting | Paediatric anaesthesia |
| Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. | Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T | 2020-07-01 | AT deficiency, MPI-CDG, guidelines, hepatic fibrosis, hyperinsulinaemic hypoglycaemia, mannose phosphate isomerase, protein-losing enteropathy | Journal of inherited metabolic disease |
| Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort. | Wicker C, Roda C, Perry A, Arnoux JB, Brassier A, Castelle M, Servais A, Donadieu J, Bouchereau J, Pigneur B, Labrune P, Ruemmele FM, de Lonlay P | 2020-06-01 | ANC, Absolute Neutrophil Count, Anti-inflammatory solutions, CD, Crohn's disease, CRP, C-reactive protein, EEN, Exclusive Enteral Nutrition, EN, Enteral Nutrition, ENT, Ear, Nose and Throat, ESR, erythrocyte sedimentation rate, G-CSF, Granulocyte colony-stimulating factor, G6PT, glucose-6-phosphate translocase, GSD1, Glycogen storage disease type I, Glycogen storage disease type 1B, Harvey Bradshaw score, IBD, Inflammatory Bowel Disease, Inflammatory bowel disease, Neutropenia, PEN, Partial Enteral Nutrition, SD, Standard Deviation | Molecular genetics and metabolism reports |
| Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. | Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O | 2020-05-26 | 6-pyruvoyltetrahydropterin synthase deficiency, BH4, Consensus guidelines, Dihydropteridine reductase deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, Neurotransmitter, SIGN, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, Tetrahydrobiopterin deficiency, iNTD | Orphanet journal of rare diseases |
| Hyperferritinemia and diagnosis of type 1 Gaucher disease. | Marchi G, Nascimbeni F, Motta I, Busti F, Carubbi F, Cappellini MD, Pietrangelo A, Corradini E, Piperno A, Girelli D | 2020-05-01 | | American journal of hematology |
| Dual-action ambroxol in treatment of chronic pain in Gaucher Disease. | Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B | 2020-05-01 | | European journal of pain (London, England) |
| Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation. | Azevedo O, Gago MF, Miltenberger-Miltenyi G, Robles AR, Costa MA, Pereira O, Vide AT, Castelo Branco G, Simões S, Guimarães MJ, Salgado A, Sousa N, Cunha D | 2020-03-01 | Cardiac, F113L, Fabry disease, Late-onset, Natural history, Phenotype | Molecular genetics and metabolism reports |
| Long-term outcome of methylmalonic aciduria after kidney, liver, or combined liver-kidney transplantation: The French experience. | Brassier A, Krug P, Lacaille F, Pontoizeau C, Krid S, Sissaoui S, Servais A, Arnoux JB, Legendre C, Charbit M, Scemla A, Francoz C, Benoist JF, Schiff M, Mochel F, Touati G, Broué P, Cano A, Tardieu M, Querciagrossa S, Grévent D, Boyer O, Dupic L, Oualha M, Girard M, Aigrain Y, Debray D, Capito C, Ottolenghi C, Salomon R, Chardot C, de Lonlay P | 2020-03-01 | combined liver-kidney transplantation, kidney transplantation, liver transplantation, metabolic outcome, methylmalonic aciduria, renal failure | Journal of inherited metabolic disease |
| Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. | Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S | 2020-02-23 | GALNS, LC-MS/MS, MPS IVA, bone-targeting, keratan sulfate, skeletal dysplasia, tracheal reconstructive surgery | International journal of molecular sciences |
| Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. | Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B | 2020-02-01 | EFG1, GFM1, OXPHOS, mitochondrial diseases, mitochondrial translation | Human mutation |
| Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network. | Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M | 2020-01-06 | Access to treatment., European Reference Network., Hereditary Metabolic Diseases., Inborn errors of metabolism., Orphan medicinal product | Orphanet journal of rare diseases |
| Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age. | Parini R, Pintos-Morell G, Hennermann JB, Hsu TR, Karabul N, Kalampoki V, Gurevich A, Ramaswami U | 2020-01-01 | Fabry Outcome Survey, Fabry disease, agalsidase alfa, enzyme replacement therapy, estimated glomerular filtration rate, left ventricular hypertrophy | Drug design, development and therapy |
| Administration of gamma-hydroxybutyrate instead of beta-hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error. | Tuchmann-Durand C, Thevenet E, Moulin F, Lesage F, Bouchereau J, Oualha M, Khraiche D, Brassier A, Wicker C, Gobin-Limballe S, Arnoux JB, Lacaille F, Wicart C, Coat B, Schlattler J, Cisternino S, Renolleau S, Secretan PH, De Lonlay P | 2020-01-01 | computerized prescription system, inborn error of metabolism, pharmacovigilance, orphan drug, ketone body, medication error, propionic | JIMD reports |
| Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees. | Gago MF, Azevedo O, Guimarães A, Teresa Vide A, Lamas NJ, Oliveira TG, Gaspar P, Bicho E, Miltenberger-Miltenyi G, Ferreira J, Sousa N | 2020-01-01 | Fabry disease, GLA, Gb3, Parkinson’s disease, brain magnetic resonance imaging, α-galactosidase A | Journal of Parkinson's disease |
| Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. | Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Arjona C, Brandi N, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA | 2019-12-01 | CLTRN, B0AT1, EAAC1, Hartnup disease, aminoaciduria, rBAT-b0, +AT | American journal of medical genetics. Part A |
| Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems. | Álvarez JV, Herrero Filgueira C, González AF, Colón Mejeras C, Beiras Iglesias A, Tomatsu S, Blanco Méndez J, Luzardo Álvarez A, Couce ML, Otero Espinar FJ | 2019-10-11 | elosulfase alfa, enzyme activity, in vitro cell studies, lysosomal storage diseases, nanostructured lipid carrier (NLC) | Pharmaceutics |
| Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems. | Álvarez JV, Bravo SB, García-Vence M, De Castro MJ, Luzardo A, Colón C, Tomatsu S, Otero-Espinar FJ, Couce ML | 2019-09-18 | enzyme replacement therapy, lysosomal disorders, nanoparticles, proteomics | International journal of molecular sciences |
| Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients. | Goyanes A, Madla CM, Umerji A, Duran Piñeiro G, Giraldez Montero JM, Lamas Diaz MJ, Gonzalez Barcia M, Taherali F, Sánchez-Pintos P, Couce ML, Gaisford S, Basit AW | 2019-08-15 | 3D printed drug products, Drug compounding, Maple syrup urine disease, Metabolic disorders, Orphan diseases, Pediatric pharmacy, Personalized medicine, Three dimensional printing | International journal of pharmaceutics |
| Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians. | Saudubray JM, Mochel F, Lamari F, Garcia-Cazorla A | 2019-07-01 | complex lipids disorders, complex molecules, inborn errors of metabolism classification, neurodegenerative disorders, neurodevelopmental disorders, trafficking disorders | Journal of inherited metabolic disease |
| Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism. | Castells AA, Gueraldi D, Balada R, Tristán-Noguero A, Cortès-Saladelafont E, Ramos F, Meavilla S, De Los Santos M, Garcia-Volpe C, Colomé R, Couce ML, Sierra C, Ormazábal A, Batllori M, Artuch R, Armstrong J, Alcántara S, Garcia-Cazorla À | 2019-06-24 | | Scientific reports |
| Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency. | Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, De Lonlay P, Ceballos-Picot I | 2019-06-01 | Disease management, HND, HPRT deficiency, Hyperuricemia, Lesch-Nyhan disease, Prognosis | Molecular genetics and metabolism |
| Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. | Ullio-Gamboa G, Udobi KC, Dezard S, Perna MK, Miles KN, Costa N, Taran F, Pruvost A, Benoit JP, Skelton MR, Lonlay P, Mabondzo A | 2019-06-01 | creatine, creatine transporter deficiency, dodecyl creatine ester, drug delivery, microemulsion, nasal administration, neurotherapeutics for CTD | Nanomedicine (London, England) |
| Research activity and capability in the European reference network MetabERN. | Heard JM, Bellettato C, van Lingen C, Scarpa M | 2019-05-29 | European reference Centres, Hereditary metabolic diseases, Medical research activity, Multidisciplinary research | Orphanet journal of rare diseases |
| Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient. | Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, Seta N, Moore S, Chantret I | 2019-02-01 | | Pediatric research |
| Possible strategies to cross the blood-brain barrier. | Bellettato CM, Scarpa M | 2018-11-16 | Blood–brain barrier, Central nervous system, Drug delivery, Mucopolysaccharidoses | Italian journal of pediatrics |
| Synaptic metabolism and brain circuitries in inborn errors of metabolism. | García-Cazorla À, Artuch R, Bayès À | 2018-11-01 | Brain metabolism, Neurobiology, Neurometabolic disorders, Synapse, Synaptic transmission, Synaptic vesicle disorders, Synaptopathies | Journal of inherited metabolic disease |
| Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? | Debray FG, Damjanovic K, Rosset R, Mittaz-Crettol L, Roux C, Braissant O, Barbey F, Bonafé L, De Bandt JP, Tappy L, Paquot N, Tran C | 2018-08-01 | | The American journal of clinical nutrition |
