Document Detail

Citrullinemia type 1 genetic diagnosis and prenatal diagnosis in subsequent pregnancy.
MedLine Citation:
PMID:  24222285     Owner:  NLM     Status:  In-Data-Review    
Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.
G Karthikeyan; Sujatha Jagadeesh; Suresh Seshadri; J Haberle
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  50     ISSN:  0974-7559     ISO Abbreviation:  Indian Pediatr     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-11-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  965-6     Citation Subset:  IM    
Womens Center, Coimbatore; Mediscan systems, Chennai, India; and Division of Metabolism, University Childrens Hospital, Steinweiesstrasse, Switzerland. Correspondence to: Dr G Karthikeyan, GK Baby Clinic, 472, Muniappan Koil Street, Coimbatore 641 003, India.
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