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Genetic mutation profile of isovaleric acidemia patients in Taiwan

  • Published:2007-02 Issue:2 Volume:90 Page:134-139
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Lin Wei-De,Wang Chung-Hsing,Lee Cheng-Chung,Lai Chien-Chen,Tsai Yushin,Tsai Fuu-Jen

Publisher

Elsevier BV

Subject

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

Reference26 articles.

1. Isovaleric acidemia: a new genetic defect of leucine metabolism;Tanaka;Proc. Natl. Acad. Sci. USA,1966

2. Isovaleric acidemia: clinical features of a new genetic defect of leucine metabolism;Budd;N. Engl. J. Med.,1967

3. Isovaleric acidemia: medical and neuro-developmental effects of long-term therapy;Berry;J. Pediatr.,1988

4. Branched chain organic acidurias;Sweetman,2001

5. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity;Vockley;Am. J. Med. Genet. C Semin. Med. Genet.,2006
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