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5. 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 [TBL] [Abstract][Full Text] [Related]
6. A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. Groot CJ; Haan GL; Hulstaert CE; Hoomes FA Pediatr Res; 1977 Oct; 11(10 Pt 2):1112-6. PubMed ID: 20597 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
12. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Fukao T; Nakamura H; Song XQ; Nakamura K; Orii KE; Kohno Y; Kano M; Yamaguchi S; Hashimoto T; Orii T; Kondo N Hum Mutat; 1998; 12(4):245-54. PubMed ID: 9744475 [TBL] [Abstract][Full Text] [Related]
13. Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency. Zhang G; Fukao T; Sakurai S; Yamada K; Michael Gibson K; Kondo N Mol Genet Metab; 2006 Nov; 89(3):222-6. PubMed ID: 16935016 [TBL] [Abstract][Full Text] [Related]
14. Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. Fukao T; Yamaguchi S; Scriver CR; Dunbar G; Wakazono A; Kano M; Orii T; Hashimoto T Hum Mutat; 1993; 2(3):214-20. PubMed ID: 8103405 [TBL] [Abstract][Full Text] [Related]
15. Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide. Fukao T; Matsuo N; Zhang GX; Urasawa R; Kubo T; Kohno Y; Kondo N Hum Mutat; 2003 Jun; 21(6):587-92. PubMed ID: 12754704 [TBL] [Abstract][Full Text] [Related]
16. Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Fukao T; Aoyama Y; Murase K; Hori T; Harijan RK; Wierenga RK; Boneh A; Kondo N Mol Genet Metab; 2013; 110(1-2):184-7. PubMed ID: 23920042 [TBL] [Abstract][Full Text] [Related]
17. [Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency]. Yeste Fernández D; Castelló Girona F; Mora Graupera J; Riudor Taravila E; Arranz Amo J; Ribes Rubió A; Pérez Cerdá C An Esp Pediatr; 1996 Jun; 44(6):620-2. PubMed ID: 8849116 [No Abstract] [Full Text] [Related]
18. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Wakazono A; Fukao T; Yamaguchi S; Hori T; Orii T; Lambert M; Mitchell GA; Lee GW; Hashimoto T Hum Mutat; 1995; 5(1):34-42. PubMed ID: 7728148 [TBL] [Abstract][Full Text] [Related]
19. 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; 9(3):277-9. PubMed ID: 9090533 [No Abstract] [Full Text] [Related]