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