Similar articles for PMID: 10604145

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1

beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?

Monastiri K, Amri F, Limam K, Kaabachi N, Guediche MN. Monastiri K, et al. J Inherit Metab Dis. 1999 Dec;22(8):932-3. doi: 10.1023/a:1005695524913. J Inherit Metab Dis. 1999. PMID: 10604145 No abstract available.

2

Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.

Yamaguchi S, Sakai A, Fukao T, Wakazono A, Kuwahara T, Orii T, Hashimoto T. Yamaguchi S, et al. Pediatr Res. 1993 May;33(5):429-32. doi: 10.1203/00006450-199305000-00001. Pediatr Res. 1993. PMID: 8099727

3

beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.

Gibson KM, Elpeleg ON, Bennett MJ. Gibson KM, et al. J Inherit Metab Dis. 1996;19(5):698-9. doi: 10.1007/BF01799849. J Inherit Metab Dis. 1996. PMID: 8892029 No abstract available.

4

Beta-ketothiolase deficiency in a Malaysian infant.

Rajan D, Constance LSL, Brandon P. Rajan D, et al. Med J Malaysia. 2019 Apr;74(2):174-175. Med J Malaysia. 2019. PMID: 31079130 Free article.

5

Molecular basis of 3-ketothiolase deficiency.

Fukao T, Yamaguchi S, Kano M, Orii T, Osumi T, Hashimoto T. Fukao T, et al. Prog Clin Biol Res. 1992;375:573-81. Prog Clin Biol Res. 1992. PMID: 1438401 No abstract available.

6

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.

Søvik O, Saudubray JM, Munnich A, Sweetman L. Søvik O, et al. J Inherit Metab Dis. 1992;15(3):359-62. doi: 10.1007/BF02435976. J Inherit Metab Dis. 1992. PMID: 1405470 No abstract available.

7

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. Fukao T, et al. Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9090533 No abstract available.

8

Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.

Jackson S, Kler RS, Bartlett K, Pourfarzam M, Aynsley-Green A, Bindoff LA, Turnbull DM. Jackson S, et al. Prog Clin Biol Res. 1992;375:327-37. Prog Clin Biol Res. 1992. PMID: 1438378 No abstract available.

9

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. Nagasawa H, et al. Pediatr Res. 1989 Aug;26(2):145-9. doi: 10.1203/00006450-198908000-00016. Pediatr Res. 1989. PMID: 2570398

10

Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.

Ngu LH, Zabedah MY, Shanti B, Teh SH. Ngu LH, et al. Malays J Pathol. 2008 Dec;30(2):109-14. Malays J Pathol. 2008. PMID: 19291920 Free article.

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