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Journal Abstract Search

170 related items for PubMed ID: 9435370

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  • 2. Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
    Ngu LH, Zabedah MY, Shanti B, Teh SH.
    Malays J Pathol; 2008 Dec; 30(2):109-14. PubMed ID: 19291920
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  • 4. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
    Fukao T, Scriver CR, Kondo N, t2 Collaborative Working Group.
    Mol Genet Metab; 2001 Feb; 72(2):109-14. PubMed ID: 11161836
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  • 6. Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
    Wajner M, Sanseverino MT, Giugliani R, Sweetman L, Yamaguchi S, Fukao T, Shih VE.
    Clin Genet; 1992 Apr; 41(4):202-5. PubMed ID: 1349518
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  • 7. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.
    Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N.
    Pediatr Res; 2004 Jul; 56(1):60-4. PubMed ID: 15128923
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  • 9. 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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  • 11. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.
    Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B.
    J Inherit Metab Dis; 1991 Mar; 14(1):63-74. PubMed ID: 1861461
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  • 12. 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 Mar; 5(2):113-20. PubMed ID: 7749408
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  • 13. Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.
    Nagasawa H, Yamaguchi S, Orii T, Schutgens RB, Sweetman L, Hashimoto T.
    Pediatr Res; 1989 Aug; 26(2):145-9. PubMed ID: 2570398
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  • 14. 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 Aug; 9(3):277-9. PubMed ID: 9090533
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  • 16. 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 Aug; 19(5):698-9. PubMed ID: 8892029
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