Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies. [electronic resource]
Producer: 20060130Description: 801-2 p. digitalISSN:- 0141-8955
- 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
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Publication Type: Case Reports; Journal Article
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