Funghini, S <br/><br/>
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.  [electronic resource] 

 -  Journal of inherited metabolic disease  2005 
 - 801-2 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1007/s10545-005-0053-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amniocentesis<br/>Amniotic Fluid--metabolism<br/>Biopsy<br/>Carbamoyl-Phosphate Synthase (Ammonia)--deficiency<br/>Chorionic Villi--metabolism<br/>DNA Mutational Analysis<br/>Female<br/>Fibroblasts--metabolism<br/>Heterozygote<br/>Humans<br/>Liver--embryology<br/>Pregnancy<br/>Pregnancy Complications<br/>Prenatal Diagnosis--methods<br/>Sequence Analysis, DNA<br/>Skin--metabolism<br/>Time Factors