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Journal of Inherited Metabolic Disease|June 10, 2010
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduriaBeatriz Puisac, María Arnedo, Cesar H Casale, et al.Molecular Therapy. Methods & Clinical Development|July 10, 2024
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse modelAnna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, et al.Human Mutation|September 18, 2009
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, et al.Journal of Inherited Metabolic Disease|September 18, 2023
CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disordersGerard Muñoz-Pujol, Olatz Ugarteburu, Eulàlia Segur-Bailach, et al.Journal of Alzheimer'S Disease : JAD|August 16, 2011
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiencyCarlos Ortez, Cristina Villar, Carmen Fons, et al.Journal of Clinical Medicine|March 4, 2020
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug DevelopmentNoelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, et al.International Journal of Molecular Sciences|October 27, 2022
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 DeficiencyGerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, et al.Journal of Inherited Metabolic Disease|January 6, 2010
Study of inborn errors of metabolism in urine from patients with unexplained mental retardationAngela Sempere, Angela Arias, Guillermo Farré, et al.Journal of Inherited Metabolic Disease|May 11, 2021
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?Sarah Fogh, Graziana Dipace, Anne Bie, et al.Molecular Genetics and Metabolism|November 6, 2020
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolutionFrederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, et al.Pageof 11