Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:6.4.1.1 (pyruvate carboxylase)
 1,516 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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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PMID:Prenatal diagnosis of pyruvate carboxylase deficiency. 391 80