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Human Mutation|December 8, 2006
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 elementManuèle Miné, Jian-Min Chen, Michèle Brivet, et al.JIMD Reports|February 23, 2013
A Novel Mutation in CPT1A Resulting in Hepatic CPT DeficiencyMonique Fontaine, Anne-Frédérique Dessein, Claire Douillard, et al.Journal of Inherited Metabolic Disease|October 28, 2010
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathyMagalie Barth, Chris Ottolenghi, Laurence Hubert, et al.Neuromuscular Disorders : NMD|March 31, 2009
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiencyPascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, et al.Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.Science (New York, N.Y.)|May 26, 2012
A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humansDaniel K Bricker, Eric B Taylor, John C Schell, et al.Human Mutation|June 29, 2010
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhoodCaroline Michot, Laurence Hubert, Michèle Brivet, et al.Pageof 3