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Journal Abstract Search

133 related items for PubMed ID: 7923765

  • 1. 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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  • 6. 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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  • 7. Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
    Su L, Li X, Lin R, Sheng H, Feng Z, Liu L.
    Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337
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  • 8. 3-Ketothiolase deficiency.
    Middleton B, Bartlett K, Romanos A, Gomez Vazquez J, Conde C, Cannon RA, Lipson M, Sweetman L, Nyhan WL.
    Eur J Pediatr; 1986 Apr; 144(6):586-9. PubMed ID: 3709573
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  • 9. 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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  • 12. 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 Apr; 19(5):698-9. PubMed ID: 8892029
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  • 13. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
    Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J.
    Mol Genet Metab; 2008 Jan; 93(1):30-5. PubMed ID: 17945527
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  • 14. 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. Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
    Rosa RB, Schuck PF, de Assis DR, Latini A, Dalcin KB, Ribeiro CA, da C Ferreira G, Maria RC, Leipnitz G, Perry ML, Filho CS, Wyse AT, Wannmacher CM, Wajner M.
    J Inherit Metab Dis; 2005 Jun; 28(4):501-15. PubMed ID: 15902553
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  • 17. 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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