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Mutation analysis of Indian patients with urea cycle defects


Gupta, Neerja; Kabra, Madhulika; Häberle, Johannes (2012). Mutation analysis of Indian patients with urea cycle defects. Indian Pediatrics, 49(7):585-586.

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.

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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4 citations in Web of Science®
7 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:July 2012
Deposited On:20 Feb 2013 13:53
Last Modified:07 Dec 2017 19:44
Publisher:Indian Academy of Pediatrics
ISSN:0019-6061
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/s13312-012-0100-y
Official URL:http://www.indianpediatrics.net/july2012/july-585-586.htm
Related URLs:http://www.indianpediatrics.net/july2012/585.pdf
PubMed ID:22885444

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