Rare inherited metabolic diseases (IMDs), of which there are more than 700, are individually rare but collectively frequent. Many metabolic diseases have severe, sometimes life-threatening, implications for patients. These conditions include disorders of all organs, can affect people of any age, and require multidisciplinary collaboration between a range of professionals.

Early diagnosis can improve outcomes but only 5 % of known IMDs are currently included in newborn screening programmes in Europe and there is a need for harmonisation of national programmes. For many of these conditions, knowledge about their natural history, the efficacy and safety of therapies, and longterm follow-up is incomplete.

MetabERN seeks to improve the lives of people affected by this highly heterogenous group of diseases by dividing them into seven main categories. It is the first pan-European and pan-metabolic network of its kind.

The network is setting up an inventory of metabolic diseases, developing patient information and training sessions, advancing collaborative diagnosis of new diseases, and establishing a long-term referral point bringing expertise to patients.

MetabERN will develop a real-time consultation platform for clinical decision-making processes and foster translational research programmes across IMDs. It will share knowledge within the network and beyond by expanding to additional regions and countries.


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Below an overview is given of scientific publications related to MetabERN. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "MetabERN" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

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TitleAuthorsDateKeywordsIssue name
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 C2024-07-08COQ7, CoQ10, mitochondrial diseases, neurological disordersJournal 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 G2024-07-04Blood–brain barrier, inborn errors of metabolism, neurodegeneration, neurometabolic disorders, physiological and synthetic delivery systemsExpert opinion on drug delivery
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman 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 A2024-06-25Orphanet 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 TC2024-06-19Ammonia, Glutaminase, Lipopolysaccharide, Metabolic-associated steatotic liver disease, Toll-like receptor 4, Urea cycleMetabolism: clinical and experimental
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.Høj A, Ørngreen MC, Naume MM, Lund AM2024-06-13Chitotriosidase, Enzyme replacement therapy, Gaucher disease type 3, Hematopoietic stem cell transplantation, Inherited metabolic disorder, Lysosomal storage disorderMolecular 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 R2024-06-08ASMD type A/B, ASMD type B, Acid sphingomyelinase deficiency, Natural history, Retrospective studyEuropean 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 F2024-06-06ATP6AP1-CDG, Congenital disorders of glycosylation, Intronic variant, RNA-seq, Whole exome sequencing, Whole genome sequencingMolecular 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 A2024-05-30RNA interference technology, antisense oligonucleotide therapy, chaperone, direct‐acting antiviral agents, drug repositioning, haem synthesis, intracellular transport inhibitor, mRNA formulated in lipid nanoparticles, melanogenesis stimulator, porphyriasLiver 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 J2024-05-27Archives 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 MÁ2024-05-24Attention, Cognitive stimulation, EEG connectivity, Pediatrics, Rett syndrome, Therapeutic interventionResearch 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 P2024-05-17Age at first NBS, Dried urine samples, Intelligence quotient, Mass spectrometry, Second biomarkerOrphanet 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 BM2024-04-24P300, 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 ML2024-04-19Additive manufacturing of drug products, Patient acceptability of formulations, Pediatrics, Polypills, Precision pharmaceuticals, Semi-solid extrusion 3D printingInternational 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 S2024-04-04consensus, epilepsy, management, mitochondrial diseases, recommendationsEuropean 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 F2024-04-01Glycosylation, Golgi, Manganese, TMEM165, galactoseTranslational 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 ML2024-03-12animal studies, biomarkers, mucopolysaccharidosis type IV, musculoskeletal manifestations, proteomicInternational 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 J2024-03-05Gaucher disease, enzyme-replacement therapy (ERT), lysosomal-storage disorder, substrate-reduction therapy (SRT), womenBiomedicines
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 P2024-03-01Amino acid mixture, Body composition, Growth retardation, Inherited amino-acid metabolism disorders, Protein-restricted diet, Pubertal delayMolecular 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 J2024-03-01Glutamate, Glutamine supplementation, MELAS syndrome, MRI spectroscopy, Mitochondrial diseaseNeuroradiology
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 I2024-02-26Child(ren), Combined sclerosis of the spinal cord, Early onset encephalopathy, Scurvy, Vitamin deficiencies, Wernicke encephalopathyEuropean 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 Á2024-02-21N-methyl-d-aspartate receptor, l-serine, developmental and epileptic encephalopathy, neurodevelopmental disorders, precision medicineBrain : 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 ASP2024-02-14Lipid 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 F2024-02-02Agalsidase beta, Anti-drug antibodies, Enzyme replacement therapy, Fabry disease, Infusion time, Infusion-associated reactionsOrphanet 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 EL2024-02-01European 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 T2024-02-01Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, SurveyJournal 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 ML2024-01-31Odimet®, dietary program, inborn errors of metabolism, nutritional management, tele-healthNutrients
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 A2024-01-09dopamine, 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 FJ2024-01-0821-Hydroxylase, 21-hidroxilasa, APOB gene, CYP21A2, Familial hypobetalipoproteinaemia, Gen APOB, Hiperplasia suprarrenal congénita no clásica, Hipobetalipoproteinemia familiar, Non-classical congenital adrenal hyperplasiaClinica 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 ME2024-01-01brain, classic galactosemia, cognitive problems, galactose, movement disorders, neurodevelopment, neuropsychiatryFrontiers 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 A2024-01-0124-h Phe-fluctuations monitoring, Adherence, GI discomfort, Phenylketonuria, Protein substitutes, Sleep problemsMolecular 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 J2024-01-01Acid maltase deficiency, Enzymatic replacement therapy, Glycogen storage disease type II, Myozime, Patient registry, Pompe disease, Spanish Pompe registryNeuromuscular 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 JB2024-01-01ABCC8, compound heterotozygosity, congenital hyperinsulinaemic hypoglycaemia, congenital hyperinsulinism (CHI), diazoxide-unresponsive, pasireotideFrontiers in endocrinology
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 ML2023-12-25chewable 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 patientsNutrients
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 M2023-12-18OXPHOS, functional genomics, laboratorial diagnosis, methodology, mitochondrial cytopathies, rare diseasesEndocrine, 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 A2023-12-01early recognition, hematopoietic stem cell transplant, lysosomal storage disorder, mucopolysaccharidosis type 1, multiorgan dysfunctionCureus
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 B2023-12-01Cardiomyopathy, Primary carnitine deficiency, Short QT syndrome, Sudden death, Ventricular arrythmiaMolecular 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 SE2023-12-01Caregiver, Diet, Dietary knowledge, Phe levels, PhenylketonuriaNutrition (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 M2023-12-01ATP2B2, Ataxia, Dystonia, Neurodevelopmental disorder, Plasma membrane Ca(2+) ATPase isoform 2Genetics 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 FB2023-11-07Pharmaceutics
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 A2023-11-06Rett syndrome, SLC7A5, metabolomics, neurodevelopmental diseases, tryptophanJournal 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 GT2023-11-01Biochemical genetics, Enzyme replacement, Inborn error of metabolism (IEM), Newborn screening (NBS), Nucleic acid therapy, Substrate reduction therapyMolecular 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 TB2023-11-01Creatine transporter deficiency, Female case report, Proton magnetic resonance spectroscopy, SLC6A8, Supplementation treatment, X-linked intellectual disabilityMolecular 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 J2023-11-01European 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 CEM2023-11-01European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapyJournal 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 P2023-11-01Coagulation, Emergency protocol, Haemorrhages, PMM2-CDG, Stroke-like episodes, ThrombosisMolecular 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 S2023-11-01developmental 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 crystallographyJournal 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 B2023-11-01children, clinical evaluation, clinical investigation, expert workshop, high-risk medical devices, recommendationsActa 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 C2023-10-30Children, Complexity, Home care, Hospital resources, Inherited metabolic diseases, Paediatric palliative care referralEndocrine, 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 A2023-10-26Bioenergetics, Leriglitazone, Metabolic modulation, Mitochondria, Neuroinflammation, Rett syndromeJournal 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 M2023-10-22Gaucher disease type 3, clinical manifestations, mutations, treatmentBiomedicines
Citrullinemia and What Else?Almeida J, Ferreira F, Baptista N, Ferreira S, Santos C, Diogo L2023-10-18Citrullinemia type I (CTLN1), Genetic background, Neurocognitive dysfunction, Perinatal issuesEndocrine, 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 L2023-10-01intellectual disability, methylmalonic aciduria, methylmalonyl-coa epimerase, seizures, spasticityCureus
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 D2023-10-01epilepsy, genetics, population, movement disorders, neuromuscular diseasesJournal 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 R2023-09-22Cognition, Health-related quality of life, Inherited metabolic disease, Metabolic control, PhenylketonuriaOrphanet journal of rare diseases
SERAC1 Deficiency- A New Phenotype.Martins E, Durães J, Nogueira C, Gomes J, Vilarinho L, Macário C2023-09-143-methylglutaconic aciduria, MEGD(H)EL syndrome, MEGDEL syndrome, SERAC1 deficiencyEndocrine, 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 Á2023-09-11PKU, adult, comorbidities, consensus recommendations, low Phe diet, medical nutrition therapy, modified Delphi, phenylketonuriaNutrients
Development of tools to facilitate the diagnosis of hereditary fructose intolerance.Panis B, Janssen LEF, Lefeber DJ, Simons N, Rubio-Gozalbo ME, Brouwers MCGJ2023-09-01food 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 R2023-09-01REC, Wilson disease, exchangeable copper, labile copper, non-ceruloplasmin bound copper, serum biomarkersJournal 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 CEM2023-09-01medicine development, orphan medicinal products, public-private partnerships, rare diseases, socially responsible pricingJournal 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 B2023-08-25Gaucher disease, adult-oriented medical care, biomarkers, coordination of care, enzyme replacement therapy, genetics, molecular diagnosis, multiple myelomaJournal 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 P2023-08-13breastfeeding, diet therapy, glutaric aciduria 1, homocystinuria, human milk, inborn error of metabolism, maple syrup urine disease, phenylketonuria, tyrosinemia 1, urea cycle disorderNutrients
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 C2023-08-01Enzyme replacement therapy, Infantile onset Pompe disease, Juvenile onset Pompe disease, Lysosomal storage disease, Motor neuron involvement, Myopathic phenotypeMolecular 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 P2023-07-21Ammonia, Arginine, Citrulline, Urea cycle disordersOrphanet 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 KLM2023-07-164, 5-dihydroxyheptanoic acid, 4, 5-dihydroxyhexanoic acid, GABA metabolism, biomarker, cerebrospinal fluid, neurotransmission, next generation metabolic screening, pathophysiology, untargeted metabolomics, zebrafish SSADH modelJournal 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 TS2023-07-04AADCD, Aromatic L-amino acid decarboxylase, Eladocagene exuparvovec, gene therapy, iNTD registry, neurotransmitterJournal 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 A2023-07-03BCKDK, autism spectrum disorder, intellectual disability, microcephaly, newborn screeningBrain : 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 DP2023-07-01Fabry disease, Registry, agalsidase beta, enzyme replacement therapy, natural history, real-world dataMolecular 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 P2023-07-01Autophagy, Hydroxychloroquine, LPIN1, Oxidative stress, TreatmentBiomedicine & 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 P2023-07-01corticosteroid, lipin-1 deficiency, rhabdomyolysis, survivalJournal 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 F2023-06-01Endocrinologia, 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 G2023-05-26ACE inhibitors, SGLT2 inhibitors, angiotensin receptor blockers, chronic kidney disease, migalastat, nephropathyJournal 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 FB2023-05-22decision analysis framework, immunomodulation, individual treatment trials, mucopolysaccharidosis, personalized medicine, risk–benefit assessmentPharmaceutics
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 A2023-05-15Bioenergetics, Demyelinating disorders, Lipid rafts, Metabolism, NeuroscienceThe 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 S2023-05-09Clinical research networks, Diagnosis, IRDiRC, Interoperability, Patient unmet needs, Rare diseases, TherapiesOrphanet 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 J2023-05-01CFSPID, carriers, CFTR gene analysis, Cystic fibrosis, IRT, Newborn bloodspot screening, PAPJournal 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 U2023-04-11COVID-19, NBS, contingency plan, dried blood spot, newborn screening, pandemic, telemedicineInternational 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 C2023-04-01exonic 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 Á2023-03-30ABCA1, ApoA-I, Tangier disease, bioinformatics, high-density lipoproteinJournal 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 F2023-03-14Leigh syndrome, mitochondrial oxidative phosphorylation, multiple system atrophy, neurodegeneration, ubiquinoneAntioxidants (Basel, Switzerland)
Individual Treatment Trials-Do Experts Know and Use This Option to Improve the Treatability of Mucopolysaccharidosis?Wiesinger AM, Strobl H, Lagler FB2023-03-09ESITT, MPS, decision analysis framework model, expert survey, individual treatment trials, mucopolysaccharidosis, n-of-1, precision medicine, rare disease treatmentPharmaceuticals (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 D2023-03-08burden of disease, disease management, health equity, health policies, patient journey, rare diseases, social impactInternational 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 AM2023-03-01MAN2B1, alpha‐mannosidosis, antidrug antibody, infusion‐related reactions, velmanase alfaJIMD 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 GT2023-03-01GALT deficiency, classic galactosemia, fertility preservation, folliculogenesis signaling pathways, galactose-1-phosphate uridylyltransferase, galactosemia type 1, hypergonadotropic hypogonadism, pregnancy, premature ovarian insufficiency, subfertilityHuman 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 E2023-03-01NPC1, NPC2, Niemann–Pick disease, cholestasis, liver pathologyThe 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 MD2023-02-04ELAC2, RNA processing, cardiomyopathy, mitochondrial disease, neurological diseaseLife (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 DP2023-02-01Fabry disease, Glycosphingolipid synthesis, Lysosomal storage disorder, Substrate reduction therapy, VenglustatMolecular 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 JG2023-02-01MELAS syndrome, glutamate, glutamine supplementation, mitochondrial diseaseEuropean 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 E2023-01-17Neurological disorders, NeuroscienceThe 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 RD2023-01-05B12 deficiency, dried blood spot, methylmalonic acidemia, newborn screening, propionic acidemia, sensitivity, specificityInternational 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 E2023-01-01Anderson-Fabry disease, ECG pattern, bundle branch block, cardiac involvement, electrocardiogram (ECG), left ventricular hyperertrophy, repolarization abnormalitiesFrontiers 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 CEM2023-01-01alternative drug-to-market routes, marketing authorization, orphan drugs, patient access, rare diseases, regulatory frameworkFrontiers 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 E2023-01-01Consanguinity, Inborn errors of metabolism, Inherited metabolic disorders, Irish Travellers, Recessive diseaseEuropean 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 MH2023-01-01MODY, Molecular genetics, Monogenic diabetes, NGSActa 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 MAAP2023-01-01O-glucosylation, SLC2A1, next-generation metabolic screening, oligosaccharides, untargeted metabolomicsJournal 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 A2022-12-20acute intermittent porphyria, fasting, glucose homeostasis, hepatic porphyrias, insulin resistance, mitochondrial function and biogenesisInternational 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 H2022-12-01ARFID, Munchausen syndrome by proxy, Scurvy, UndernutritionEating 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 J2022-12-01European 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 A2022-11-28Human molecular genetics
Proteomics in Inherited Metabolic Disorders.Chantada-Vázquez MDP, Bravo SB, Barbosa-Gouveia S, Alvarez JV, Couce ML2022-11-25biomarkers, enzyme replacement therapy, inborn errors of metabolism, lysosomal disorders, proteomicsInternational 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 G2022-11-21exercise intolerance, hyperCKaemia, myalgia, obscurin, rhabdomyolysisBrain : 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 A2022-11-01ECHS1, HIBCH, dystonia, inherited metabolic diseaseEuropean 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 JL2022-11-01POI, S135L variant, acute symptoms, galactosemia, long-term outcomes, neurocognitive outcomes, speech delayJournal 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 À2022-11-01Amino acids, Brain volumetric study, Inherited neurotransmitter disorders, Monoamines, Neuroimaging, Volumetric deficitNeuroradiology
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 C2022-10-26inborn error of metabolism, methymalonic acidemia, neonatal screening, propionic acidemia, tandem mass spectrometry, vitamin B12Journal 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 B2022-10-25allelic expression imbalance, differential gene expression, inherited metabolic disorders, multi-omics, targeted transcriptomicsInternational 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 GS2022-10-06Blood
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 E2022-10-01Sanfilippo syndrome Type III, adaptive behavior, cognition, natural history, organ MRIThe 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 DP2022-09-09Fabry disease, cascade genotyping, early diagnosis, family screening, rare diseasesGenes
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 ME2022-09-02Galactose epimerase deficiency, Galactose-restricted diet, Galactosemia type III, Galactosemias NetworkOrphanet 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 AC2022-09-01Adolescent, Consensus recommendations, Modified Delphi, PKU, Phenylketonuria, Young adultMolecular 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 A2022-09-01Chaperone therapy, Chronic kidney disease, Enzyme replacement therapy, Fabry disease, Left ventricular hypertrophy, Therapeutic goalMolecular 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 MH2022-09-01MODY, genetic testing, probabilityEndocrinology, 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 D2022-09-01Thrombosis 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 M2022-08-28clinical 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 MJ2022-08-22Infectious disease, Inflammation, NeutrophilsJCI 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 Á2022-08-01Annals 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 À2022-07-01Developmental 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 AA2022-07-01gluatric aciduria type 1, high‐excretor, high‐risk screen, low‐excretor, newborn screening, retrospective analysisJIMD 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 B2022-07-01GLUT1, GLUT1DS, SLC2A1, hypoglycorrhachiaClinical genetics
Genetic disorders of cellular trafficking.García-Cazorla A, Oyarzábal A, Saudubray JM, Martinelli D, Dionisi-Vici C2022-07-01autophagy, cellular trafficking, inherited metabolic diseases, membrane contact sites, vesicular traffickingTrends 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 D2022-06-29Enzyme replacement therapy (ERT), Glycosaminoglycans (GAGs), Heart involvement, Mucopolysaccharidoses (MPS), ValvulopathiesOrphanet 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 R2022-06-20Agalsidase alfa, Cardiovascular outcomes, Enzyme replacement therapy, Fabry disease, Renal outcomesOrphanet 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 C2022-06-01Nature 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 J2022-06-01Branched-chain amino acids, Glutamate, Glutamine, MELAS, Mitochondrial diseaseJournal 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 A2022-05-24COVID-19, autoantibodies, infection fatality rate, relative risk, type I IFNsProceedings 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 B2022-05-23acylcarnitines, fatty acid oxidation, lymphocyte enzyme activity, medium-chain acyl-CoA dehydrogenase, newborn screeningJournal 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 P2022-05-16Branched-chain amino acid-free formula, Decompensation, Intravenous, Maple syrup urine disease, TreatmentOrphanet 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 ML2022-05-12Phenomizer, myopathy, neuromuscular disorders, next-generation sequencingJournal 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 JR2022-05-06Europe, NBS, Slovenia, access inequality, meeting, newborn screening, rare diseasesInternational 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 LD2022-05-01Nature 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 ML2022-03-04Gene expression, Maturity-onset diabetes of the young (MODY), Nanostring nCounter techonology, Transcriptomic diagnosisOrphanet 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 M2022-03-04COVID-19, IMDs, Inherited metabolic disorders, SARS-CoV-2Orphanet 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 MJ2022-03-03medRxiv : 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 C2022-03-01inborn error of metabolism, neonatal screening, tandem mass spectrometryJIMD 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 Á2022-03-01Brain Symmetry Index, Rett syndrome, cognitive stimulation, electroencephalography (EEG), eye-trackingJournal 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 PCJI2022-02-01The Lancet regional health. Europe
Editorial: NGS technologies of rare diseases diagnosis.Couce ML, González-Vioque E2022-01-01DNA SEQUENCING, exome sequencing, genome sequencing, transcriptome, variantsFrontiers 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 F2022-01-01autoimmune myelofibrosis, bone marrow, inborn errors of immunity, myelofibrosis, pediatric immune myelofibrosis, reticulin fibrosisFrontiers 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 P2022-01-01COVID - 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 ML2022-01-01amniotic fluid, enteral nutrition, intestinal perforation, prematurity, surgeryFrontiers 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 ML2022-01-01MSUD, dietary treatment, intravenous branched-chain amino acid-free formula, metabolic decompensation, metabolic emergency treatmentFrontiers 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 A2022-01-01ALPS, BENTA, CARD11, CBL, RALD, RASopathies, lymphocytosis, splenomegalyFrontiers 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 FB2022-01-01MPS, cytopathology, drug discovery, immunomodulation, inflammation, mucopolysaccharidosesFrontiers 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 C2022-01-01NCL2 disease, dried blood spot, early diagnosis, enzymatic activity, screening tripeptidyl peptidase 1Frontiers 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 MG2022-01-01ARDS, COVID-19, estradiol, outcome, severity, sex hormones, testosteroneFrontiers 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 F2022-01-01COVID-19, dendritic cells, single cell transcriptomicsEuropean 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 ML2021-12-15Sengers syndrome, acylglycerol kinase, mitochondrial ATP generation, mitochondrial dysfunction, oxidative phosphorylation machineryInternational journal of molecular sciences
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.Pinto C, Sousa D, Ghilas V, Dardis A, Scarpa M, Macedo MF2021-11-28Niemann–Pick, acid sphingomyelinase deficiency, immune, lysosomal storage disease, sphingomyelinaseInternational 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 G2021-11-25RAN translation, antisense transcription, myotonic dystrophies, phenotypic modulators, primary cell culturesJournal 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 M2021-11-19acute porphyrias, inborn errors of metabolism, mitochondrial disease, urea cycle disordersDiagnostics (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 M2021-11-03Elosulfase alfa, Health-related quality of life, Mobility, Morquio A syndrome, Mucopolysaccharidosis IVAOrphanet 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 MA2021-11-01PDSS1, coenzyme Q10, cutaneous, erythema, mitochondria, phalangealJIMD 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 S2021-11-01Annals 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 E2021-11-01Journal 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 J2021-10-27burden of disease, dietary treatment, glycogen storage disease type Ia, long-term complications, quality of life, uncooked cornstarch, unmet needNutrients
Bone Mineralization and Calcium Phosphorus Metabolism.Couce ML, Saenz de Pipaon M2021-10-21Nutrients
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 YJ2021-10-04The 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 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 TGJ2021-09-01eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicineJournal of inherited metabolic disease
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Castro MJ, Del Toro M, Giugliani R, Couce ML2021-08-25adeno-associated virus, blood brain barrier, central nervous system, gene therapy, lentivirus, mucopolysaccharidoses, viral vectorsInternational 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 ML2021-08-19differential diagnosis, genetic diagnosis, inborn errors of metabolismGenes
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 JL2021-08-19Science 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 JL2021-08-19Science 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 MA2021-08-11Rett Syndrome (RTT), accelerometer, artifact detection, data distribution, electroencephalography (EEG), energy functionEntropy (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 S2021-08-03IMDs, Inherited metabolic diseases, Psychological support, Rare diseases, Social servicesOrphanet 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 J2021-08-01molecular targeted therapy, neoplasms, neurofibromatosis type 1, plexiform neurofibromasESMO open
Energy metabolism in childhood neurodevelopmental disorders.A O, U M, Lf B, A GC2021-07-01Autism, Brain energy metabolism, Inborn errors of energy metabolism, Neurodevelopment, Rett syndromeEBioMedicine
Acute intermittent porphyria, givosiran, and homocysteine.Fontanellas A, Ávila MA, Arranz E, Enríquez de Salamanca R, Morales-Conejo M2021-07-01Journal 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 M2021-07-01The 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 J2021-06-30aldolase B, biomarker, diet, fructose, hereditary fructose intolerance, sialotransferrin profile, sorbitol, sucroseJournal of clinical medicine
Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Castro MJ, Sánchez-Pintos P, Abdelaziz-Salem N, Leis R, Couce ML2021-06-20DEXA, body mass index, bone mineral density, disorders of the intermediary metabolism, height, osteopeniaNutrients
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 ML2021-06-07biomarkers, enzyme replacement therapy, lysosomal disorders, proteomicsInternational journal of molecular sciences
Treatment adherence in tyrosinemia type 1 patients.González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L2021-06-03Adherence, Diet, Nitisinone, Tyrosinemia type 1Orphanet 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 ML2021-05-31breast milk, infant milk formula, minerals, newborn, preterm, toxic metals, trace elementsNutrients
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 A2021-05-13Chronic kidney disease, Estimated glomerular filtration rate, Measured glomerular filtration rate, Methylmalonic acidemia, TubulopathyOrphanet 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 S2021-05-01Fabry disease, at-risk populations screening, cascade genotyping, early diagnosis, family genetic testing, pedigree drawing, rare diseaseMolecular 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 S2021-05-01Fabry disease, enzyme replacement therapy, lysosomal storage disorders, nanomedicineWiley 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 M2021-05-01MetabERN, amino acid and organic acid diseases, development, inborn errors of metabolism, morbidity, mortality, quality of life, solid organ transplantationJournal 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 N2021-04-01Journal 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 A2021-03-05acute intermittent porphyria, carbohydrate loading therapy, experimental liver-targeted insulin, fast-acting insulin, hyperinsulinemia, insulin resistanceBiomedicines
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 I2021-03-01Fabry disease, N‐sulfoglucosamine sulfohydrolase, Sanfilippo syndrome, alpha‐galactosidase A, drug delivery, enzyme replacement therapy, lysosomal storage disordersJournal 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 P2021-03-01Molecular 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 B2021-03-01European 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 À2021-03-01biomarkers, cerebrospinal fluid, early parkinsonism, neurotransmitters, proteomicsMovement 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 M2021-01-26Inborn errors of metabolism, Newborn screening, Prevention, Public Health, SpainRevista espanola de salud publica
Screen Time and Bone Status in Children and Adolescents: A Systematic Lamas C, Sánchez-Pintos P, José de Castro M, Sáenz de Pipaon M, Couce ML2021-01-01bone mineral density, bone turnover, computer, mobile phone, screen, tabletsFrontiers 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 M2021-01-01adult metabolic patient, adulthood (18 years and older), challenge, continuity of care, inherited metabolic disease(s), rare disease, transition processFrontiers 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 GT2021-01-01GALK1 gene variants; neonatal complications, cataract; galactosemias registry, galactokinase 1 deficiencyGenetics 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 ML2020-12-28biomarkers, enzyme replacement therapy, lysosomal disorders, proteomicsInternational 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 B2020-12-22Gaucher disease, biomarkers, inflammation, miRNALife (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 MLF2020-12-16Expanded newborn screening, False positive, Inborn errors of metabolism, Spain, Tandem mass spectrometryRevista 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 M2020-12-03COVID-19, Coronavirus, IMD, Inherited metabolic diseases, Pandemic, Rare diseases, SARS-CoV-2, SurveyOrphanet 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 A2020-12-01Cardiomyopathy, Congenital microcephaly, Mitochondrial one-carbon metabolism, Perisylvian polymicrogyria, SHMT2Acta 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 M2020-12-01TELO2, You-Hoover-Fong syndrome, developmental delay, microcephaly, pediatric cataractOphthalmic 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 S2020-11-01NPC1, Niemann-Pick type C, RNA-seq, exon skipping, silent variant, unfolded protein responseMolecular 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 JL2020-10-23Science (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 JL2020-10-23Science (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 TH2020-10-15The 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 ML2020-10-01Decision tree, Economic assessment, Ontology, Rare diseases, SimulationJournal 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 HS2020-09-17medRxiv : 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 ML2020-09-02EARS2, LTBL, aminoacyl-tRNA synthetases, mitochondrial disordersGenes
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 O2020-08-05Orphanet 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 D2020-08-01American heart journal
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Rite S, López-Suárez O, Pérez-Muñuzuri A, Couce ML2020-07-23critically ill newborn, genetic diagnosis, genomic sequencing, trio sequencingJournal of clinical medicine
Perioperative management of children with urea cycle disorders.Del Río C, Martín-Hernández E, Ruiz A, Quijada-Fraile P, Rubio P2020-07-01anesthesia, child, hyperammonemia, perioperative period, urea cycle, vomitingPaediatric 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 T2020-07-01AT deficiency, MPI-CDG, guidelines, hepatic fibrosis, hyperinsulinaemic hypoglycaemia, mannose phosphate isomerase, protein-losing enteropathyJournal 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 P2020-06-01ANC, 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 DeviationMolecular 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 O2020-05-266-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, iNTDOrphanet 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 D2020-05-01American journal of hematology
Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.Pawlinski L, Krawczyk M, Fiema M, Tobor E, Kiec-Wilk B2020-05-01European 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 D2020-03-01Cardiac, F113L, Fabry disease, Late-onset, Natural history, PhenotypeMolecular 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 P2020-03-01combined liver-kidney transplantation, kidney transplantation, liver transplantation, metabolic outcome, methylmalonic aciduria, renal failureJournal of inherited metabolic disease
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S2020-02-23GALNS, LC-MS/MS, MPS IVA, bone-targeting, keratan sulfate, skeletal dysplasia, tracheal reconstructive surgeryInternational 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 B2020-02-01EFG1, GFM1, OXPHOS, mitochondrial diseases, mitochondrial translationHuman 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 M2020-01-06Access to treatment., European Reference Network., Hereditary Metabolic Diseases., Inborn errors of metabolism., Orphan medicinal productOrphanet 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 U2020-01-01Fabry Outcome Survey, Fabry disease, agalsidase alfa, enzyme replacement therapy, estimated glomerular filtration rate, left ventricular hypertrophyDrug 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 P2020-01-01computerized prescription system, inborn error of metabolism, pharmacovigilance, orphan drug, ketone body, medication error, propionicJIMD 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 N2020-01-01Fabry disease, GLA, Gb3, Parkinson’s disease, brain magnetic resonance imaging, α-galactosidase AJournal 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 DA2019-12-01CLTRN, B0AT1, EAAC1, Hartnup disease, aminoaciduria, rBAT-b0, +ATAmerican 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 FJ2019-10-11elosulfase 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 ML2019-09-18enzyme replacement therapy, lysosomal disorders, nanoparticles, proteomicsInternational 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 AW2019-08-153D printed drug products, Drug compounding, Maple syrup urine disease, Metabolic disorders, Orphan diseases, Pediatric pharmacy, Personalized medicine, Three dimensional printingInternational 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 A2019-07-01complex lipids disorders, complex molecules, inborn errors of metabolism classification, neurodegenerative disorders, neurodevelopmental disorders, trafficking disordersJournal 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 À2019-06-24Scientific 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 I2019-06-01Disease management, HND, HPRT deficiency, Hyperuricemia, Lesch-Nyhan disease, PrognosisMolecular 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 A2019-06-01creatine, creatine transporter deficiency, dodecyl creatine ester, drug delivery, microemulsion, nasal administration, neurotherapeutics for CTDNanomedicine (London, England)
Research activity and capability in the European reference network MetabERN.Heard JM, Bellettato C, van Lingen C, Scarpa M2019-05-29European reference Centres, Hereditary metabolic diseases, Medical research activity, Multidisciplinary researchOrphanet 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 I2019-02-01Pediatric research
Possible strategies to cross the blood-brain barrier.Bellettato CM, Scarpa M2018-11-16Blood–brain barrier, Central nervous system, Drug delivery, MucopolysaccharidosesItalian journal of pediatrics
Synaptic metabolism and brain circuitries in inborn errors of metabolism.García-Cazorla À, Artuch R, Bayès À2018-11-01Brain metabolism, Neurobiology, Neurometabolic disorders, Synapse, Synaptic transmission, Synaptic vesicle disorders, SynaptopathiesJournal 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 C2018-08-01The American journal of clinical nutrition
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Last update: July 13th, 2024 on 01:30