Citations for
1PC, PCDLA
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.
Hum Mutat 30(5):734-40. 2009
2PC, PCDLA
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC.
Mol Genet Metab 95(1-2):31-8. Epub 2008 Aug 3. 2008
3PC, PCDLA
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.
Mol Genet Metab 87(2):175-7. Epub 2005 Dec 1. 2006
4PC, PCDLA
Molecular characterization fo pyruvate carboxylase deficiency in two consanguineous families.
Wexler ID, et al.
Pediatr Res 43 : 579-584. 1998
5PC, PCDLA
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
Carbone MA, et al.
Am J Hum Genet 62 : 1312-1319. 1998
6PCDLA, PDHA1
Lacticacidemia: Biochemical, clinical, and genetic considerations.
Robinson BH.
Adv Hum Genet 18 : 151-179. 1989
7PCDLA
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.
Saudubray JM, et al.
Acta Paediatr Scand 65 : 717-724. 1976