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References
These sources were used to develop the Genetics Home Reference
gene summary
on the PC gene.
Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M. Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. Am J Med Genet. 1999 May 21;84(2):94-101.
PubMed citation
Carbone MA, Applegarth DA, Robinson BH. Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Hum Mutat. 2002 Jul;20(1):48-56.
PubMed citation
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH. Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. Am J Hum Genet. 1998 Jun;62(6):1312-9.
PubMed citation
Jitrapakdee S, Vidal-Puig A, Wallace JC. Anaplerotic roles of pyruvate carboxylase in mammalian tissues. Cell Mol Life Sci. 2006 Apr;63(7-8):843-54. Review.
PubMed citation
Pithukpakorn M. Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Mol Genet Metab. 2005 Aug;85(4):243-6. Review. No abstract available.
PubMed citation
Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N. A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. Mol Genet Metab. 2006 Feb;87(2):175-7. Epub 2005 Dec 1.
PubMed citation
Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ. Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. Pediatr Res. 1998 May;43(5):579-84.
PubMed citation
Reviewed: August 2006
Published: January 30, 2009