Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference27 articles.
1. A " NEW " DISORDER OF ISOLEUCINE CATABOLISM
2. An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis
3. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
4. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency
5. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
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3. A short sequence within AluSx induces downstream exon skipping in an ACAT1 minigene model;All Life;2021-01-01
4. Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations;Experimental and Therapeutic Medicine;2020-09-01
5. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency;Human Mutation;2019-07-03
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