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Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia |
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| Authors: | P. Kamoun Ph. Parvy D. Pham Dinh J. Boué L. Cathelineau |
| Affiliation: | 1. Laboratoire de Biochimie Génétique, Hôpital des Enfants Malades, 75743 Paris, Cedex 15, France;2. Centre d'études de Biologie prenatale, Chateau de Longchamp, Carrefour Longchamp, Bois de Boulogne, 75016 Paris, France |
| Abstract: | We report relatively high citrulline concentration in amniotic fluid of a citrullinemic fetus suggesting that prenatal detection of this condition could be done on this basis in conjunction with a direct or an indirect determination of argininosuccinate synthetase activity in amniotic fluid cells. |
| Keywords: | Citrullinemia Argininosuccinate synthetase Amniotic fluid citrulline |