Identification of heteroxygotes for the defect of mitochondrial 3‐ketoacyl‐CoA thiolase causing 2‐methyl‐3‐hydroxybutyric aciduria
- 1 June 1987
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 10 (S2) , 270-272
- https://doi.org/10.1007/bf01811423
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- 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
- A defect in l-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studiesClinica Chimica Acta; International Journal of Clinical Chemistry, 1974
- An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic AcidosisPediatric Research, 1973