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Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

✍ Scribed by Cedric H.L Shackleton; Esther Roitman; Lisa E Kratz; Richard I Kelley


Book ID
117214106
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
203 KB
Volume
64
Category
Article
ISSN
0039-128X

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Fetal demise with Smith–Lemli–Opitz synd
✍ L. M. Linck; S. J. Hayflick; D. S. Lin; K. P. Battaile; S. Ginat; T. Burlingame; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 2 views

Smith±Lemli±Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the ®nal enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol D 7 -reductase (DHCR7). We diagnosed SLOS i