99 related articles for article (PubMed ID: 8103405)
21. 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]
22. 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;
Mol Genet Metab; 2001 Feb; 72(2):109-14. PubMed ID: 11161836
[TBL] [Abstract][Full Text] [Related]
23. Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
Thümmler S; Dupont D; Acquaviva C; Fukao T; de Ricaud D
Tohoku J Exp Med; 2010 Jan; 220(1):27-31. PubMed ID: 20046049
[TBL] [Abstract][Full Text] [Related]
24. Isolation and characterization of acetoacetyl-CoA thiolase gene essential for n-decane assimilation in yeast Yarrowia lipolytica.
Yamagami S; Iida T; Nagata Y; Ohta A; Takagi M
Biochem Biophys Res Commun; 2001 Apr; 282(3):832-8. PubMed ID: 11401539
[TBL] [Abstract][Full Text] [Related]
25. A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene.
Fukao T; Boneh A; Aoki Y; Kondo N
Mol Genet Metab; 2008 Aug; 94(4):417-421. PubMed ID: 18511318
[TBL] [Abstract][Full Text] [Related]
26. Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Fukao T; Zhang G; Rolland MO; Zabot MT; Guffon N; Aoki Y; Kondo N
Mol Genet Metab; 2007 Dec; 92(4):375-8. PubMed ID: 17719254
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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
[TBL] [Abstract][Full Text] [Related]
29. Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method.
Fukao T; Wakazono A; Song XQ; Yamaguchi S; Zacharias R; Donlan MA; Orii T
Prenat Diagn; 1995 Apr; 15(4):363-7. PubMed ID: 7617578
[TBL] [Abstract][Full Text] [Related]
30. A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene.
Aoyama Y; Sasai H; Abdelkreem E; Otsuka H; Nakama M; Kumar S; Aroor S; Shukla A; Fukao T
Mol Med Rep; 2017 Jun; 15(6):3879-3884. PubMed ID: 28393214
[TBL] [Abstract][Full Text] [Related]
31. [Acetoacetyl-CoA thiolase deficiency, mitochondrial].
Yamaguchi S
Ryoikibetsu Shokogun Shirizu; 2001; (33):87-8. PubMed ID: 11462730
[No Abstract] [Full Text] [Related]
32. Translation initiation and assembly of peripherin in cultured cells.
Ho CL; Chin SS; Carnevale K; Liem RK
Eur J Cell Biol; 1995 Oct; 68(2):103-12. PubMed ID: 8575457
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
Mizukami K; Nakabayashi T; Naitoh S; Takeda M; Tarumi T; Mizoguchi I; Ieko M; Koike T
Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
[TBL] [Abstract][Full Text] [Related]
35. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Tsuruta M; Mitsubuchi H; Mardy S; Miura Y; Hayashida Y; Kinugasa A; Ishitsu T; Matsuda I; Indo Y
J Hum Genet; 1998; 43(2):91-100. PubMed ID: 9621512
[TBL] [Abstract][Full Text] [Related]
36. Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.
Fukao T; Song XQ; Yamaguchi S; Hashimoto T; Orii T; Kondo N
Pediatr Res; 1996 Jun; 39(6):1055-8. PubMed ID: 8725269
[TBL] [Abstract][Full Text] [Related]
37. Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.
Orii KO; Aoyama T; Souri M; Orii KE; Kondo N; Orii T; Hashimoto T
Biochem Biophys Res Commun; 1995 Dec; 217(3):987-92. PubMed ID: 8554625
[TBL] [Abstract][Full Text] [Related]
38. Cloning, expression and characterization of a thiolase gene from Clostridium pasteurianum.
Meng Y; Li J
Biotechnol Lett; 2006 Aug; 28(16):1227-32. PubMed ID: 16802096
[TBL] [Abstract][Full Text] [Related]
39. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
Klima H; Ullrich K; Aslanidis C; Fehringer P; Lackner KJ; Schmitz G
J Clin Invest; 1993 Dec; 92(6):2713-8. PubMed ID: 8254026
[TBL] [Abstract][Full Text] [Related]
40. Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
Mrázová L; Fukao T; Hálovd K; Gregová E; Kohút V; Pribyl D; Chrastina P; Kondo N; Pospisilová E
J Inherit Metab Dis; 2005; 28(2):235-6. PubMed ID: 15877211
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
