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    Results: 6

    1.

    Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

    Marin-Valencia I, Roe CR, Pascual JM.

    Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Review.

    PMID:
    20598931
    [PubMed - indexed for MEDLINE]
    2.

    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. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

    PMID:
    19306334
    [PubMed - indexed for MEDLINE]
    3.

    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. 2008 Sep-Oct;95(1-2):31-8. doi: 10.1016/j.ymgme.2008.06.006. Epub 2008 Aug 3.

    PMID:
    18676167
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    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. 2006 Feb;87(2):175-7. Epub 2005 Dec 1.

    PMID:
    16325442
    [PubMed - indexed for MEDLINE]
    5.

    Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

    GarcĂ­a-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM.

    Ann Neurol. 2006 Jan;59(1):121-7.

    PMID:
    16278852
    [PubMed - indexed for MEDLINE]
    6.

    Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

    Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM.

    Mol Genet Metab. 2005 Apr;84(4):305-12.

    PMID:
    15781190
    [PubMed - indexed for MEDLINE]

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