152 related articles for article (PubMed ID: 1978869)
1. Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.
Fukao T; Yamaguchi S; Nagasawa H; Kano M; Orii T; Fujiki Y; Osumi T; Hashimoto T
J Inherit Metab Dis; 1990; 13(5):757-60. PubMed ID: 1978869
[No Abstract] [Full Text] [Related]
2. Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
Fukao T; Yamaguchi S; Kano M; Orii T; Fujiki Y; Osumi T; Hashimoto T
J Clin Invest; 1990 Dec; 86(6):2086-92. PubMed ID: 1979337
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
Fukao T; Yamaguchi S; Wakazono A; Okamoto H; Orii T; Osumi T; Hashimoto T
J Inherit Metab Dis; 1992; 15(5):815-20. PubMed ID: 1359192
[No Abstract] [Full Text] [Related]
5. 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]
6. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
Fukao T; Song XQ; Yamaguchi S; Orii T; Wanders RJ; Poll-The BT; Hashimoto T
Hum Mutat; 1995; 5(1):94-6. PubMed ID: 7728155
[No Abstract] [Full Text] [Related]
7. 3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
Nagasawa H; Yamaguchi S; Orii T; Schutgens RB; Sweetman L; Hashimoto T
J Inherit Metab Dis; 1989; 12(3):368-72. PubMed ID: 2575689
[No Abstract] [Full Text] [Related]
8. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
Kuwahara T; Fukao T; Kano M; Yamaguchi S; Orii T; Hashimoto T
Hum Genet; 1992 Nov; 90(3):208-10. PubMed ID: 1362557
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.
Yamaguchi S; Fukao T; Kano M; Wakazono A; Orii T; Sakura N; Hashimoto T
Tohoku J Exp Med; 1992 Jun; 167(2):143-53. PubMed ID: 1362011
[TBL] [Abstract][Full Text] [Related]
11. 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; 5(2):113-20. PubMed ID: 7749408
[TBL] [Abstract][Full Text] [Related]
12. 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
Pediatr Res; 1993 May; 33(5):429-32. PubMed ID: 8099727
[TBL] [Abstract][Full Text] [Related]
13. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
Fukao T; Yamaguchi S; Orii T; Schutgens RB; Osumi T; Hashimoto T
J Clin Invest; 1992 Feb; 89(2):474-9. PubMed ID: 1346617
[TBL] [Abstract][Full Text] [Related]
14. 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
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. 3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.
Yamaguchi S; Fukao T; Nagasawa H; Orii T; Sakura N; Schutgens RB; Sweetman L; Fujiki Y; Kamijo K; Osumi T
Prog Clin Biol Res; 1990; 321():673-9. PubMed ID: 1970183
[No Abstract] [Full Text] [Related]
17. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
Sundaram S; Nair M; Namboodhiri S; Menon RN
Neurol India; 2018; 66(6):1802-1804. PubMed ID: 30504584
[No Abstract] [Full Text] [Related]
18. Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase.
Fukao T; Kamijo K; Osumi T; Fujiki Y; Yamaguchi S; Orii T; Hashimoto T
J Biochem; 1989 Aug; 106(2):197-204. PubMed ID: 2478525
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
