Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Funghini, S

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

Publication Type: Case Reports; Journal Article

0141-8955

10.1007/s10545-005-0053-6 doi


Amniocentesis
Amniotic Fluid--metabolism
Biopsy
Carbamoyl-Phosphate Synthase (Ammonia)--deficiency
Chorionic Villi--metabolism
DNA Mutational Analysis
Female
Fibroblasts--metabolism
Heterozygote
Humans
Liver--embryology
Pregnancy
Pregnancy Complications
Prenatal Diagnosis--methods
Sequence Analysis, DNA
Skin--metabolism
Time Factors