Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect

M. Irons*, E. R. Elias, D. Abuelo, S. Tint, G. Salen

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.

Original languageEnglish (US)
Pages (from-to)28-32
Number of pages5
JournalInternational Pediatrics
Volume10
Issue number1
StatePublished - 1995
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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