title: Mutation analysis of Indian patients with urea cycle defects.
abstract: Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.
authors.affiliation: Genetic Unit, Department of Pediatrics, AIIMS, New Delhi 110 029, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: J
authors.initials: J
authors.lastname: Häberle
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007194:India; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011296:Prenatal Diagnosis; D012680:Sensitivity and Specificity; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis / Q000235:genetics*