Literature DB >> 3698316

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria.

K Hiyama, N Sakura, T Matsumoto, T Kuhara.   

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Year:  1986        PMID： 3698316     DOI： 10.1016/0009-8981(86)90283-4

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  9 in total

1.  Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.

Authors:  T Kuwahara; T Fukao; M Kano; S Yamaguchi; T Orii; T Hashimoto
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.

Authors:  T Fukao; S Yamaguchi; H Nagasawa; M Kano; T Orii; Y Fujiki; T Osumi; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.

Authors:  T Fukao; G X Zhang; N Sakura; T Kubo; H Yamaga; A Hazama; Y Kohno; N Matsuo; M Kondo; S Yamaguchi; Y Shigematsu; N Kondo
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 5.  Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.

Authors:  O Søvik
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.

Authors:  S Aramaki; D Lehotay; L Sweetman; W L Nyhan; S C Winter; B Middleton
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

7.  6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

Authors:  C H Cromby; N J Manning; R J Pollitt; S Powell; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.

Authors:  S Yamaguchi; T Orii; N Sakura; S Miyazawa; T Hashimoto
Journal:  J Clin Invest       Date:  1988-03       Impact factor: 14.808

9.  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.

Authors:  T Fukao; S Yamaguchi; M Kano; T Orii; Y Fujiki; T Osumi; T Hashimoto
Journal:  J Clin Invest       Date:  1990-12       Impact factor: 14.808
  9 in total

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