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Journal Abstract Search

144 related items for PubMed ID: 8892029

  • 21. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
    Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E.
    J Hum Genet; 2019 Feb; 64(2):99-111. PubMed ID: 30393371
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  • 22. Beta-ketothiolase deficiency brought with lethargy: case report.
    Arica V, Arica SG, Dag H, Onur H, Obut O, Gülbayzar S.
    Hum Exp Toxicol; 2011 Oct; 30(10):1724-7. PubMed ID: 21247997
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  • 23. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
    Sundaram S, Nair M, Namboodhiri S, Menon RN.
    Neurol India; 2018 Oct; 66(6):1802-1804. PubMed ID: 30504584
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  • 25. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
    Duran M, Bruinvis L, Ketting D, Kamerling JP, Wadman SK, Schutgens RB.
    Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658
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  • 27. 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.
    Hum Mutat; 1995 Jan; 5(2):113-20. PubMed ID: 7749408
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  • 29. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
    Yamaguchi S, Orii T, Sakura N, Miyazawa S, Hashimoto T.
    J Clin Invest; 1988 Mar; 81(3):813-7. PubMed ID: 2893809
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  • 35. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
    Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T.
    Hum Genet; 1992 Nov; 90(3):208-10. PubMed ID: 1362557
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  • 37. Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T.
    Hum Mutat; 1997 Nov; 9(3):277-9. PubMed ID: 9090533
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  • 38. Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
    Bennett MJ, Powell S, Swartling DJ, Gibson KM.
    Clin Chem; 1994 Oct; 40(10):1879-83. PubMed ID: 7923765
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  • 39. Mitochondrial acetoacetyl-CoA thiolase deficiency.
    Hartlage P, Eller G, Carter L, Roesel A, Hommes F.
    Biochem Med Metab Biol; 1986 Oct; 36(2):198-206. PubMed ID: 3778684
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