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Article

Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient

1 May 1994

Abstract excerpt

We report on four patients with the Smith-Lemli-Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and...

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PMID: 8209913
DOI: 10.1002/ajmg.1320500409

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Source receipt: pubmed, retrieved 7 Sept 2026.

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