Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti
β¦ LIBER β¦
Characterization of the biochemical abnormality in the Smith-Lemli-Opitz syndrome
β Scribed by Ashok K. Batta; Gsrald Salen
- Book ID
- 112908568
- Publisher
- Springer-Verlag
- Year
- 1996
- Tongue
- English
- Weight
- 405 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0019-5456
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