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  • Title: Prenatal diagnosis of pyruvate carboxylase deficiency.
    Author: Robinson BH, Toone JR, Benedict RP, Dimmick JE, Oei J, Applegarth DA.
    Journal: Prenat Diagn; 1985; 5(1):67-71. PubMed ID: 3919380.
    Abstract:
    Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and 3H-biotin labelling of proteins in cultured fetal skin fibroblasts. Sufficient amniocytes were cultured in 3-4 weeks for enzyme analysis in two centres. Citrulline concentration in amniotic fluid (AF) was normal in the affected fetus.
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