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American Journal of Medical Genetics|March 17, 1999
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS)L R Otto, R L Boriack, D J Marsh, et al.The Veterinary Record|July 8, 1989
Primary hyperoxaluria (L-glyceric aciduria) in the cat: a newly recognised inherited diseaseR E McKerrell, W F Blakemore, M F Heath, et al.Neurology|October 1, 1987
Clinical outcome after complete or partial cortical resection for intractable epilepsyE Wyllie, H Lüders, H H Morris, et al.European Journal of Clinical Investigation|July 28, 2001
Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiencyP P Van Veldhoven, E Meyhi, R H Squires, et al.Biotechniques|August 19, 2000
Transfer and expression of foreign genes in mammalian cellsA Colosimo, K K Goncz, A R Holmes, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|May 29, 1999
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidationM J Bennett, S D Spotswood, K F Ross, et al.Pediatric Research|September 1, 1996
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant alleleJ D Isaacs, H F Sims, C K Powell, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysisM J Bennett, K M Gibson, W G Sherwood, et al.The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.The Journal of Clinical Investigation|September 17, 1998
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationJ A Ibdah, I Tein, C Dionisi-Vici, et al.Pageof 35