Literature DB >> 6422156

A case of beta-ketothiolase deficiency.

M J Bennett, J M Littlewood, A MacDonald, R J Pollitt, J Thompson.   

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Year:  1983        PMID： 6422156     DOI： 10.1007/bf02310871

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


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  1 in total

1.  Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.

Authors:  R B Schutgens; B Middleton; J F vd Blij; J W Oorthuys; H A Veder; T Vulsma; W H Tegelaers
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183
  1 in total
  4 in total

Review 1.  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

2.  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

3.  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

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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