Literature DB >> 10604145

beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?

K Monastiri1, F Amri, K Limam, N Kaabachi, M N Guediche.   

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Year:  1999        PMID： 10604145     DOI： 10.1023/a:1005695524913

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


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  4 in total

1.  beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.

Authors:  K M Gibson; O N Elpeleg; M J Bennett
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.

Authors:  P T Ozand; M Rashed; G G Gascon; A al Odaib; A Shums; M Nester; J Brismar
Journal:  Brain Dev       Date:  1994-11       Impact factor: 1.961

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

Review 4.  Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

Authors:  T Fukao; S Yamaguchi; T Orii; T Hashimoto
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878
  4 in total

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