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Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

The prenatal diagnosis of ornithine transcarbamylase deficiency (OTCD) was made by using radioactive microassays for ornithine transcarbamylase (OTC) and--as an internal control--carbamyl phosphate synthetase (CPS I) in liver biopsy material from two 19-week-old at-risk fetuses. In each case, no OTC...

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Autors principals: Holzgreve, W, Golbus, M S
Format: Artigo
Idioma:Inglês
Publicat: 1984
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684429/
https://ncbi.nlm.nih.gov/pubmed/6711559
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