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rdf:type |
|
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lifeskim:mentions |
|
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pubmed:issue |
1
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pubmed:dateCreated |
1985-3-26
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pubmed:abstractText |
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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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:issn |
0197-3851
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
67-71
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:3919380-Amino Acid Metabolism, Inborn Errors,
pubmed-meshheading:3919380-Amniotic Fluid,
pubmed-meshheading:3919380-Biotin,
pubmed-meshheading:3919380-Cells, Cultured,
pubmed-meshheading:3919380-Citrulline,
pubmed-meshheading:3919380-Female,
pubmed-meshheading:3919380-Fetus,
pubmed-meshheading:3919380-Fibroblasts,
pubmed-meshheading:3919380-Humans,
pubmed-meshheading:3919380-Infant, Newborn,
pubmed-meshheading:3919380-Male,
pubmed-meshheading:3919380-Pregnancy,
pubmed-meshheading:3919380-Prenatal Diagnosis,
pubmed-meshheading:3919380-Protein Binding,
pubmed-meshheading:3919380-Pyruvate Carboxylase Deficiency Disease,
pubmed-meshheading:3919380-Skin
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pubmed:articleTitle |
Prenatal diagnosis of pyruvate carboxylase deficiency.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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