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.
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References
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Gupta, N., Kabra, M. & Häberle, J. Mutation analysis of Indian patients with urea cycle defects. Indian Pediatr 49, 585–586 (2012). https://doi.org/10.1007/s13312-012-0100-y
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DOI: https://doi.org/10.1007/s13312-012-0100-y