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Article

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Journal of inherited metabolic disease - 1 Jun 2007

Haas D, Garbade S F, Vohwinkel C, Muschol N, Trefz F K, Penzien J M, Zschocke J, Hoffmann G F, Burgard P

Abstract excerpt

Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome caused by deficiency of 7-dehydrocholesterol reductase catalysing the last step of cholesterol biosynthesis. This results in an accumulation of 7- and 8-dehydrocholesterol (7 + 8-DHC) and, in most patients, a deficiency of cholesterol. Current therapy consists of dietary cholesterol supplementation, which raises plasma cholesterol levels, but clinical...

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Identifiers

PMID: 17497248
DOI: 10.1007/s10545-007-0537-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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