Pregnancy in a healthy woman with untreated citrullinemia

We report the clinical and biochemical data on a second successful pregnancy in a woman with citrullinemia due to argininosuccinate synthetase deficiency (CTLN1). Despite very elevated plasma and urine citrulline and little or no measurable argininosuccinate synthetase enzyme activity on cultured sk...

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Veröffentlicht in:	American journal of medical genetics 2004-08, Vol.129A (1), p.77-82
Hauptverfasser:	Potter, Murray A., Zeesman, Susan, Brennan, Barbara, Kobayashi, Keiko, Gao, Hong‐Zhi, Tabata, Ayako, Saheki, Takeyori, Whelan, Donald T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult amniotic fluid Argininosuccinate Synthase - genetics Argininosuccinate Synthase - metabolism argininosuccinate synthetase Biological and medical sciences citrulline Citrulline - blood Citrulline - urine citrullinemia Citrullinemia - complications Citrullinemia - enzymology Citrullinemia - genetics Female General aspects. Genetic counseling Humans Medical genetics Medical sciences mutation analysis Mutation, Missense newborn screening Pregnancy Pregnancy Complications Pregnancy Outcome teratogenicity urea cycle disorders
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