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Article

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.

Journal of inherited metabolic disease - 1 Jan 2005

Mrázová L, Fukao T, Hálovd K, Gregová E, Kohút V, Pribyl D, Chrastina P, Kondo N, Pospisilová E

Abstract excerpt

We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.

Read the complete abstract on PubMed

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Share to Acetyl-CoA C-Acetyltransferase
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15877211
DOI: 10.1007/s10545-005-7497-6

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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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