β‐Ketothiolase (2‐methylacetoacetyl‐coenzyme a thiolase) deficiency: identification of two patients in israel
- 1 September 1996
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 19 (5) , 698-699
- https://doi.org/10.1007/bf01799849
Abstract
No abstract availableThis publication has 3 references indexed in Scilit:
- Molecular basis of β-ketothiolase deficiency: Mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme a thiolase geneHuman Mutation, 1995
- Mitochondrial 2‐methylacetoacetyl‐CoA thiolase deficiency: An inborn error of isoleucine and ketone body metabolismJournal of Inherited Metabolic Disease, 1992
- A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1992