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Pediatric Neurology|May 1, 1995
Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathyM I Shevell, G Didomenicantonio, M Sylvain, et al.Proceedings of the National Academy of Sciences of the United States of America|July 1, 1986
The Gy mutation: another cause of X-linked hypophosphatemia in mouseM F Lyon, C R Scriver, L R Baker, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelinationE Treacy, C L Clow, T R Reade, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newbornG Dunkel, C R Scriver, C L Clow, et al.The Journal of Clinical Endocrinology and Metabolism|May 1, 1983
Serum osteocalcin in the treatment of inherited rickets with 1,25-dihydroxyvitamin D3C M Gundberg, D E Cole, J B Lian, et al.Clinical and Experimental Dermatology|July 1, 1993
Familial cold urticariaC M Zip, J B Ross, M W Greaves, et al.Human Mutation|January 1, 1993
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original familiesT Fukao, S Yamaguchi, C R Scriver, et al.American Journal of Human Genetics|March 1, 1990
X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidneyE D Shields, C R Scriver, T Reade, et al.The Journal of Pediatrics|July 1, 1992
Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduriaD Chitayat, K Meagher-Villemure, O A Mamer, et al.Pediatric Research|October 6, 1997
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot studyE P Treacy, J J Delente, G Elkas, et al.Pageof 18