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The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

  • Published:2008-09 Issue:1-2 Volume:95 Page:31-38
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Wang Dong,Yang Hong,De Braganca Kevin C.,Lu Jiesheng,Yu Shih Ling,Briones Paz,Lang Tim,De Vivo Darryl C.

Publisher

Elsevier BV

Subject

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

Reference36 articles.

1. Hyperalaninemia with pyruvicemia due to pyruvate carboxylase deficiency of the liver;Yoshida;Tohoku J. Exp. Med.,1969

2. Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh’s disease;Atkin;Pediatr. Res.,1979

3. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations;Carbone;Am. J. Hum. Genet.,1998

4. Leigh’s necrotizing encephalopathy with pyruvate carboxylase deficiency;Gilbert;Arch. Pathol. Lab. Med.,1983

5. The clinical and biochemical implications of pyruvate carboxylase deficiency;De Vivo;J. Clin. Endocrinol. Metab.,1977

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