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searching for Smith–Lemli–Opitz syndrome 5 found (57 total)

alternate case: smith–Lemli–Opitz syndrome

Steven J. Fliesler (1,471 words) [view diff] exact match in snippet view article find links to article

models of Smith-Lemli-Opitz syndrome. Autophagy. 2018; 14(10). Prevention of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome. Scientific

7-Dehydrodesmosterol (56 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 (760 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 (938 words) [view diff] case mismatch in snippet view article find links to article

Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith–Lemli–Opitz Syndrome Presenting in the Neonate". Avery's Diseases of the Newborn (Tenth ed

Smoothened (3,490 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