title: [Severe neonatal type of citrullinemia. Difficulties to expose heterozygotic state. Advantage of prenatal diagnosis (author's transl)].
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D002956:Citrulline / Q000097:blood*; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000201:enzymology*; D008297:Male; D011296:Prenatal Diagnosis
chemical_list: D002956:Citrulline
vernacular_title: Forme néonatale sévèvre de citrullinémie. Difficulté de la mise en évidence de l'hétérozygotie. Intérêt du dépistage anténatal.