Literature DB >> 3148087

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

S Yamaguchi1, T Orii, N Sakura, S Miyazawa, T Hashimoto.   

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Year:  1988        PMID： 3148087     DOI： 10.1007/bf01800390

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

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

Authors:  K Hiyama; N Sakura; T Matsumoto; T Kuhara
Journal:  Clin Chim Acta       Date:  1986-03-16       Impact factor: 3.786

2.  Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.

Authors:  B H Robinson; W G Sherwood; J Taylor; J W Balfe; O A Mamer
Journal:  J Pediatr       Date:  1979-08       Impact factor: 4.406

3.  The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes.

Authors:  S Miyazawa; T Osumi; T Hashimoto
Journal:  Eur J Biochem       Date:  1980-02

4.  The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.

Authors:  B Middleton; K Bartlett
Journal:  Clin Chim Acta       Date:  1983-03-14       Impact factor: 3.786
  4 in total
  4 in total

1.  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

2.  3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.

Authors:  H Nagasawa; S Yamaguchi; T Orii; R B Schutgens; L Sweetman; T Hashimoto
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 3.  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

4.  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
  4 in total

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