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PUBMED FOR HANDHELDS

Journal Abstract Search


144 related items for PubMed ID: 8892029

  • 1. beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.
    Gibson KM, Elpeleg ON, Bennett MJ.
    J Inherit Metab Dis; 1996; 19(5):698-9. PubMed ID: 8892029
    [No Abstract] [Full Text] [Related]

  • 2. 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.
    Mol Genet Metab; 2017 Sep; 122(1-2):67-75. PubMed ID: 28689740
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  • 3. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
    Søvik O.
    J Inherit Metab Dis; 1993 Sep; 16(1):46-54. PubMed ID: 8487503
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  • 4. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
    Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S, Song XQ, Watanebe H, Kuhara T, Matsumoto I, Orii T, Kondo N.
    Clin Genet; 1996 Oct; 50(4):263-6. PubMed ID: 9001814
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  • 5. Beta-ketothiolase deficiency in a Malaysian infant.
    Rajan D, Constance LSL, Brandon P.
    Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130
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  • 6. [A case of beta-ketothiolase deficiency].
    Zhan JY, Liang L, Dong GP.
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):703-4. PubMed ID: 17217670
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  • 15. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
    Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T.
    Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592
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  • 16. beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?
    Monastiri K, Amri F, Limam K, Kaabachi N, Guediche MN.
    J Inherit Metab Dis; 1999 Dec; 22(8):932-3. PubMed ID: 10604145
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  • 18. Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.
    Søvik O, Saudubray JM, Munnich A, Sweetman L.
    J Inherit Metab Dis; 1992 Dec; 15(3):359-62. PubMed ID: 1405470
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