The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients-Reference-Cited by-同舟云学术

The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

Published:2001-02 Issue:2 Volume:72 Page:109-114
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Fukao Toshiyuki,Scriver Charles R.,Kondo Naomi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference39 articles.

1. A “new” disorder of isoleucine catabolism;Daum;Lancet,1971

2. An inherited disorder of isoleucine catabolism causing accumulation of a-methylacetoacetate and a-methyl-β-hydroxybutyrate, and intermittent metabolic acidosis;Daum;Pediatr Res,1973

3. Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase in two original families;Fukao;Hum Mutat,1993

4. Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria;Hiyama;Clin Chim Acta,1986

5. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency;Fukao;Hum Mutat,1998

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