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Journal of Inherited Metabolic Disease|July 24, 2010
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domainEster Quintana, Mercé Pineda, Aida Font, et al.Journal of Inherited Metabolic Disease|July 9, 2010
Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causingAleix Navarro-Sastre, Maria Teresa García-Silva, Elena Martín-Hernández, et al.Pediatrics|December 13, 2016
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 PatientFrederic Tort, Olatz Ugarteburu, Maria Angeles Torres, et al.JIMD Reports|February 23, 2013
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle TissueAida Font, Frederic Tort, Aleix Navarro-Sastre, et al.Clinical Biochemistry|July 30, 2021
External quality assessment in the absence of proficiency testing: A split-sample testing program experienceLeonor Guiñón, Judit García-Villoria, Antonia Ribes, et al.Archives of Neurology|April 13, 2005
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findingsManuel Seijo-Martínez, Carmen Navarro, Maria Castro del Río, et al.Journal of Inherited Metabolic Disease|March 13, 2015
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesMartina Huemer, Viktor Kožich, Piero Rinaldo, et al.Mitochondrion|September 19, 2020
Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphiaOlatz Ugarteburu, Maria Teresa Garcia-Silva, Luis Aldamiz-Echevarria, et al.Journal of Clinical Medicine|April 1, 2020
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress ResponseOlatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, et al.Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|July 15, 2015
Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsLeslie Matalonga, Ángela Arias, Frederic Tort, et al.Pageof 11