Enzyme Studies in Combined Carboxylase Deficiency
- 1 June 1985
- journal article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 447 (1), 235-251
- https://doi.org/10.1111/j.1749-6632.1985.tb18442.x
Abstract
No abstract availableThis publication has 32 references indexed in Scilit:
- Biotin Holocarboxylase Synthetase DeficiencyaAnnals of the New York Academy of Sciences, 1985
- Phenotypic variation in biotinidase deficiencyThe Journal of Pediatrics, 1983
- The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1983
- Deficient Biotinidase Activity in Late-Onset Multiple Carboxylase DeficiencyNew England Journal of Medicine, 1983
- MECHANISM OF BIOTIN-RESPONSIVE COMBINED CARBOXYLASE DEFICIENCYThe Lancet, 1982
- Inherited disorders of 3-methylcrotonyl CoA carboxylation.Archives of Disease in Childhood, 1981
- Intestinal Absorption and Malabsorption of FolatesAnnual Review of Medicine, 1980
- A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- $beta;-HYDROXYISOVALERIC ACIDURIA AND $beta;-METHYLCROTONYLGLYCINURIA: A NEW INBORN ERROR OF METABOLISMThe Lancet, 1970
- Propionyl-CoA holocarboxylase synthesis from biotinyl adenylate and the apocarboxylase in the presence of an activating enzymeBiochemical and Biophysical Research Communications, 1963