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Human Molecular Genetics|November 3, 2012
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compoundsGustavo Tiscornia, Erika Lorenzo Vivas, Leslie Matalonga, et al.Clinical Biochemistry|September 11, 2007
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screeningAngela Arias, Marc Corbella, Carmen Fons, et al.Molecular Genetics and Metabolism|September 18, 2012
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patientsAleix Navarro-Sastre, Frederic Tort, Judit Garcia-Villoria, et al.Human Molecular Genetics|November 22, 2013
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexesFrederic Tort, Xènia Ferrer-Cortès, Marta Thió, et al.Frontiers in Physiology|August 8, 2022
Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal MuscleJuan Diego Hernández-Camacho, Daniel J M Fernández-Ayala, Cristina Vicente-García, et al.Clinical Biochemistry|November 11, 2008
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosisJudit García-Villoria, Aleix Navarro-Sastre, Carme Fons, et al.Orphanet Journal of Rare Diseases|July 12, 2013
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiencyMaria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, et al.Journal of Inherited Metabolic Disease|July 6, 2018
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experienceMarta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.Journal of Medicinal Chemistry|July 28, 2012
Discovery of a novel noniminosugar acid α glucosidase chaperone seriesJingbo Xiao, Wendy Westbroek, Omid Motabar, et al.Brain : a Journal of Neurology|December 15, 2015
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndromeJuan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, et al.Pageof 11