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Journal of Inherited Metabolic Disease|July 3, 2007
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophyA Petroni, M Cappa, R Carissimi, et al.Pediatric Neurology|November 1, 1995
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophyG Uziel, B Garavaglia, E Ciceri, et al.Journal of Medical Genetics|May 3, 2005
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiencyM Bugiani, V Tiranti, L Farina, et al.Neurology|October 1, 1991
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variationB Garavaglia, G Uziel, F Dworzak, et al.Neurology|December 1, 1979
Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation?S DiDonato, M Rimoldi, A Moise, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 1, 1980
Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adultS Franceschetti, G Uziel, S Di Donato, et al.Neuropediatrics|June 21, 2002
Cerebral white matter involvement in children with mitochondrial encephalopathiesI Moroni, M Bugiani, A Bizzi, et al.Journal of Inherited Metabolic Disease|December 23, 2006
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)R Barone, L Sturiale, A Fiumara, et al.Neuromuscular Disorders : NMD|July 19, 2000
Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second caseG Uziel, F Carrara, T Granata, et al.Italian Journal of Neurological Sciences|February 1, 1986
Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophyG Uziel, F Cornelio, C Gellera, et al.Pageof 8