β-Ketothiolase deficiency with favourable evolution
- 1 December 1987
- journal article
- case report
- Published by Springer Nature in Journal of Inherited Metabolic Disease
- Vol. 10 (4) , 405-406
- https://doi.org/10.1007/bf01799988
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- Organic Acids in Urine: Sample Preparation for GC/MSPublished by Springer Nature ,1984
- 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
- An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic AcidosisPediatric Research, 1973