Citrullinemia Type 1: Genetic Diagnosis and Prenatal Diagnosis in Subsequent Pregnancy.
Indian Pediatr
;
2013 October; 50(10): 965-966
Article
Dans Anglais
| IMSEAR
| ID: sea-170012
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2013
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS