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American Journal of Medical Genetics. Part A|June 7, 2008
Peroxisomal acyl-CoA-oxidase deficiency: two new casesRosalba Carrozzo, Carlo Bellini, Simona Lucioli, et al.Journal of Inherited Metabolic Disease|July 3, 2016
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiencyCarlo Dionisi-Vici, Eyal Shteyer, Marcello Niceta, et al.Plos One|December 7, 2018
Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotypePamela Vernocchi, Federica Del Chierico, Alessandra Russo, et al.Molecular Genetics and Metabolism|January 1, 2008
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCélia Nogueira, Chiara Aiello, Roberto Cerone, et al.Journal of Inherited Metabolic Disease|March 3, 2025
Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of MetabolismSamira Safarikia, Riccardo Cirelli, Gionata Spagnoletti, et al.Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.Frontiers in Genetics|December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN in-silico structural analysisDavide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.Pageof 5