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Clinical and biochemical screening for Smith–Lemli–Opitz syndrome

✍ Scribed by V Guzzetta; E De Fabiani; G Galli; C Colombo; G Corso; M Lecora; G Parenti; P Strisciuglio; G Andria; The Italian SLOS Collaborative Group


Book ID
114810947
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
485 KB
Volume
85
Category
Article
ISSN
0803-5253

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📜 SIMILAR VOLUMES


Biochemical variants of Smith-Lemli-Opit
✍ Neklason, Deborah W.; Andrews, Katy M.; Kelley, Richard I.; Metherall, James E. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

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

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✍ Meinecke, Peter ;Blunck, Werner ;Rodewald, Alexander ;Opitz, John M. ;Reynolds, 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views
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