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Year | Number of Results |
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1992 | 1 |
1995 | 1 |
2017 | 1 |
2024 | 0 |
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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.
J Clin Invest. 1992 Feb;89(2):474-9. doi: 10.1172/JCI115608.
J Clin Invest. 1992.
PMID: 1346617
Free PMC article.
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO.
Grünert SC, et al.
Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27.
Mol Genet Metab. 2017.
PMID: 28689740
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Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Fukao T, Yamaguchi S, Orii T, Hashimoto T.
Fukao T, et al.
Hum Mutat. 1995;5(2):113-20. doi: 10.1002/humu.1380050203.
Hum Mutat. 1995.
PMID: 7749408
Review.
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