LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

(2013) Martina Witsch-Baumgartner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome

(2013) Wei Liu et al.   JOURNAL OF LIPID RESEARCH

A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC–FID to diagnose the Smith–Lemli–Opitz syndrome

(2012) Monica Gelzo et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith–Lemli–Opitz syndrome

(2010) Giuseppe Paglia et al.   ANALYST

Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome

(2008) W. J. Griffiths et al.   CLINICAL CHEMISTRY

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

(2008) Forbes D Porter   EUROPEAN JOURNAL OF HUMAN GENETICS