Book Chapter
Smith-Lemli-Opitz Syndrome
2006, Atlas of Genetic Diagnosis and Counseling, Pages 907-911
Journal Article
Pediatric Pathology: A Case Report Highlighting Its Singular Niche
Dinesh Rakheja
Pediatric and Developmental Pathology, 2003, Volume 6, Number 2, Pages 110-111
Book Chapter
Inborn Errors of Cholesterol Biosynthesis
Dorothea Haas and Richard Kelley
2006, Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases, Part Two, Pages 321-330
Book Chapter
Disorders of Cholesterol Synthesis
Hans Waterham and Peter Clayton
2006, Inborn Metabolic Diseases, VII, Pages 411-420
Journal Article
Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis
Cedric H. L. Shackleton
Lipids, 2012, Volume 47, Number 1, Pages 1-12
Book Chapter
Disorders of Cholesterol Synthesis
Hans R. Waterham and Peter T. Clayton
2012, Inborn Metabolic Diseases, VII, Pages 461-471
Journal Article
Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)
D. Haas, S. F. Garbade, C. Vohwinkel, N. Muschol and F. K. Trefz, et al.
Journal of Inherited Metabolic Disease, 2007, Volume 30, Number 3, Pages 375-387
Book Chapter
Child Syndrome
Ramón Ruiz-Maldonado, Luz Orozco-Covarrubias, Carola Duran-McKinster and Marimar Saez-De-Ocariz
2008, Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, Pages 595-601
Journal Article
The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation
Hye Jin Lee, Ji Hyuk Lee, Jong Seung Lee and Yon Ho Choe
Genes & Genomics, 2010, Volume 32, Number 1, Pages 9-12
Book Chapter
4 Defects in cholesterol biosynthesis
Gene C. Ness
Topics in Current Genetics, 2004, Volume 6, Lipid Metabolism and Membrane Biogenesis, Pages 249-278