Showing results (1-10 of 279) with videos related to
Sort By:
Pageof 28
American Journal of Human Genetics|March 1, 1985
Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiencyB J Burri, L Sweetman, W L NyhanThe Journal of Clinical Investigation|December 1, 1981
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiencyB J Burri, L Sweetman, W L NyhanPrenatal Diagnosis|May 1, 1984
Chemical analysis of succinylacetone and 4-hydroxyphenyllactate in amniotic fluid using selective ion monitoringC Jakobs, L Sweetman, W L NyhanClinica Chimica Acta; International Journal of Clinical Chemistry|July 16, 1984
Hydroxy acid metabolites of branched-chain amino acids in amniotic fluidC Jakobs, L Sweetman, W L NyhanPediatric Research|February 1, 1986
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activityI Yoshida, L Sweetman, W L NyhanNeurology|March 1, 1975
Short-chain organic acidemia and Reye's syndromeD A Trauner, W L Nyhan, L SweetmanClinica Chimica Acta; International Journal of Clinical Chemistry|October 31, 1991
A new immunochemical assay for biotinL P Thuy, L Sweetman, W L NyhanThe New England Journal of Medicine|August 17, 1978
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarianM C Higginbottom, L Sweetman, W L NyhanThe Journal of Clinical Investigation|December 1, 1979
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemiaF X Coude, L Sweetman, W L NyhanJournal of Inherited Metabolic Disease|January 1, 1984
Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolismC Jakobs, L Sweetman, W L Nyhan, et al.Pageof 28