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Article

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.

Journal of inherited metabolic disease - 1 Jan 1992

Fukao T, Yamaguchi S, Wakazono A, Okamoto H, Orii T, Osumi T, Hashimoto T

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Source

Identifiers

PMID: 1359192
DOI: 10.1007/BF01800027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.PMID 1359192Read ↗

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.Semantic proximity Read ↗

3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

[3-ketoacyl-CoA thiolase deficiency].Semantic proximity Read ↗

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.Semantic proximity Read ↗

[Short-chain 3-ketoacyl-CoA thiolase deficiency (beta-ketothiolase deficiency)].Semantic proximity Read ↗

[Mitochondrial acetoacetyl-CoA thiolase deficiency].Semantic proximity Read ↗

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.Semantic proximity Read ↗

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.Semantic proximity Read ↗

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency.Semantic proximity Read ↗

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.Semantic proximity Read ↗

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