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Proceedings of the National Academy of Sciences of the United States of America|February 28, 1995
Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblastsN Cartier, J Lopez, P Moullier, et al.Journal of Inherited Metabolic Disease|January 1, 1991
The place of fetal liver transplantation in the treatment of inborn errors of metabolismJ L Touraine, S Laplace, F Rezzoug, et al.European Journal of Pediatrics|September 1, 1993
Magnetic resonance imaging in juvenile Canavan diseaseP B Toft, R Geiss-Holtorff, M O Rolland, et al.American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.The Biochemical Journal|April 15, 1997
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Pié, N Casals, C H Casale, et al.Human Genetics|October 6, 1998
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemiaB Thöny, F Neuheiser, L Kierat, et al.Neuropediatrics|September 3, 2005
Possible genotype-phenotype correlations in children with mild clinical course of Canavan diseaseU Tacke, H Olbrich, J O Sass, et al.Annals of Neurology|November 18, 1998
Clinical approach to inherited peroxisomal disorders: a series of 27 patientsM R Baumgartner, B T Poll-The, N M Verhoeven, et al.British Journal of Haematology|August 12, 1999
Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562C Dumontet, K Fabianowska-Majewska, D Mantincic, et al.Molecular Genetics and Metabolism|October 3, 2002
Seventeen novel mutations that cause profound biotinidase deficiencyB Wolf, K Jensen, G Hüner, et al.Pageof 5