Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis defici...

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Bibliographic Details
Main Authors: F.B. Scalco, V.M. Cruzes, R.C. Vendramini, I.L. Brunetti, D. Moretti-Ferreira
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2003-10-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Smith-Lemli-Opitz
3ß-Hydroxysteroid-delta-7-reductase
Cholesterol
7-Dehydrocholesterol
Ultraviolet spectrophotometry
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000008

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