Associated Papers
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y et al.
American Journal of Medical Genetics. Part A, 2017
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
27401223 (PubMed )
Supplement: tpj201648x2.xlsx › Sheet1
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE et al.
Journal of Inherited Metabolic Disease, 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
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE et al.
American Journal of Medical Genetics. Part A, 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
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