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Molecular Genetics and Metabolism|September 5, 2012
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variationsAudrey Boutron, Anna Marabotti, Angelo Facchiano, et al.Molecular Genetics and Metabolism|August 22, 2006
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiencyStanley H Korman, James J Pitt, Avihu Boneh, et al.Annals of Neurology|January 31, 2003
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 geneRunu Dey, Manuele Mine, Isabelle Desguerre, et al.JIMD Reports|January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal developmentIvan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.European Journal of Human Genetics : EJHG|January 22, 2004
The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriersSandrine Haut, Thierry Billette de Villemeur, Michèle Brivet, et al.Developmental Medicine and Child Neurology|December 17, 2009
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesisChristine Barnerias, Jean-Marie Saudubray, Guy Touati, et al.Journal of Hepatology|January 22, 2008
Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiencyFrançois Feillet, Marc Merten, Shyue-Fang Battaglia-Hsu, et al.Human Genetics|April 24, 2003
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosisSandrine Haut, Michèle Brivet, Guy Touati, et al.Human Mutation|April 4, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyLaure Thuillier, Hidayeth Rostane, Veronique Droin, et al.European Journal of Pediatrics|July 28, 2010
Post-mortem MRI reveals CPT2 deficiency after sudden infant deathKarim Bouchireb, Anne-Marie Teychene, Odile Rigal, et al.Pageof 3