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Article

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.

Indian pediatrics - 1 Oct 2013

Karthikeyan G, Jagadeesh Sujatha, Seshadri Suresh, Häberle J

Abstract excerpt

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...

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Source

Identifiers

PMID: 24222285
DOI: 10.1007/s13312-013-0239-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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