Associated Papers
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR et al.
The Pharmacogenomics Journal, 2016
Elevated Autophagy and Mitochondrial Dysfunction in the Smith-Lemli-Opitz Syndrome.
Chang S et al.
Molecular Genetics and Metabolism Reports, 2014
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB et al.
Journal of Inherited Metabolic Disease, 2012
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Ren G et al.
Molecular Genetics and Metabolism, 2011
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
Pappu AS et al.
Journal of Lipid Research, 2006
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Ginat S et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details