title: The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
mesh_terms: D000293:Adolescent; D001124:Argininosuccinate Synthase / Q000097:blood* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood; D020159:Citrullinemia / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics* / Q000628:therapy; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology / Q000235:genetics / Q000628:therapy
chemical_list: D002956:Citrulline; D001124:Argininosuccinate Synthase