Partial ornithine transcarbamylase defic
Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method
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K. Hayasaka; K. Metoki; S. Ishiguro; S. Kato; T. Chiba; M. Hirooka; M. Kikuchi;
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Article
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1987
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Springer
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English
⚖ 665 KB
Females heterozygous for the X-linked urea cycle disorder, ornithine transcarbamylase (OTC) deficiency have a significant risk of developing hyperammonaemia. Diagnosis of this genetic defect in a proband is the essential starting point for family studies. By an immunohistochemical analysis of the li