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searching for smith–Lemli–Opitz syndrome 5 found (51 total)

alternate case: Smith–Lemli–Opitz syndrome

Steven J. Fliesler (702 words) [view diff] case mismatch in snippet view article find links to article

University Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. Molecules
7-Dehydrodesmosterol (54 words) [view diff] exact match in snippet view article find links to article
cholesterol intermediate. Nowaczyk, MJM; Waye, JS (2001). "The Smith-Lemli-Opitz syndrome: A novel metabolic way of understanding developmental biology
Mowat–Wilson syndrome (466 words) [view diff] no match in snippet view article find links to article
and 5 months; (D–E) 8 years and 1 month. Differential diagnosis Smith Lemli Opitz syndrome, Angelman syndrome, Goldberg Shprintzen megacolon syndrome Treatment
Acyl-CoA oxidase deficiency (921 words) [view diff] case mismatch in snippet view article find links to article
Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and SmithLemliOpitz Syndrome Presenting in the Neonate". Avery's Diseases of the Newborn (Tenth ed
Smoothened (3,470 words) [view diff] exact match in snippet view article find links to article
"Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome". Human Molecular Genetics. 25 (4): 693–705. doi:10.1093/hmg/ddv507