Showing results (31-40 of 62) with videos related to
Sort By:
Pageof 7
Clinical Genetics|September 1, 1984
Occurrences of methylmalonic aciduria and Hartnup disorder in the same familyV E Shih, J T Coulombe, S K Wadman, et al.Pediatric Neurology|April 13, 2001
Carbamyl phosphate synthetase 1 deficiency: a destructive encephalopathyM Takeoka, T B Soman, V E Shih, et al.Journal of Inherited Metabolic Disease|January 27, 2005
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutationJ M Stoler, M A Sabry, C Hanley, et al.The Journal of Clinical Investigation|September 1, 1976
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytesD Valle, S I Goodman, D A Applegarth, et al.Human Molecular Genetics|November 1, 1993
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuriaF L Hu, Z Gu, V Kozich, et al.American Journal of Medical Genetics|August 1, 1991
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiencyJ C Kvedar, H P Baden, L A Baden, et al.Annals of Surgery|September 1, 1974
Amino acid metabolism in acute renal failure: influence of intravenous essential L-amino acid hyperalimentation therapyR M Abel, V E Shih, W M Abbott, et al.The Journal of Pediatrics|November 5, 1997
Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcomeE Zammarchi, F Ciani, E Pasquini, et al.Human Genetics|June 1, 1987
Localization of the ornithine aminotransferase gene and related sequences on two human chromosomesV Ramesh, R Eddy, G A Bruns, et al.Clinical Genetics|April 1, 1992
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolaseM Wajner, M T Sanseverino, R Giugliani, et al.Pageof 7