Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. [electronic resource]
Producer: 20060612Description: 77-85 p. digitalISSN:- 0009-9163
- Adult
- Amniotic Fluid -- metabolism
- Chorionic Villi Sampling
- Dehydrocholesterols -- metabolism
- Estriol -- metabolism
- Family
- Female
- Gas Chromatography-Mass Spectrometry
- Genotype
- Humans
- Oxidoreductases Acting on CH-CH Group Donors -- genetics
- Phenotype
- Pregnancy
- Pregnanetriol -- metabolism
- Prenatal Diagnosis
- Smith-Lemli-Opitz Syndrome -- diagnosis
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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