Showing results (151-160 of 185) with videos related to
Sort By:
Pageof 19
Annals of Clinical Biochemistry|November 1, 1992
Measurement of sialic acid in serum and urine: clinical applications and limitationsP J Waters, E Lewry, C A PennockProceedings 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.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|March 1, 1985
Ontogeny modifies manifestations of cystinuria genes: implications for counselingC R Scriver, C L Clow, T M 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.Pediatrics|January 1, 1981
Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patientsR W Chesney, B S Kaplan, D Teitel, et al.Pageof 19