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Article

Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.

Pediatric research - 1 Nov 2004

Merkens Louise S, Connor William E, Linck Leesa M, Lin Don S, Flavell Donna P, Steiner Robert D

Abstract excerpt

Smith-Lemli-Opitz syndrome is a condition of impaired cholesterol synthesis that is caused by mutations in DHCR7 encoding 7-dehydrocholesterol-Delta7 reductase. Birth defects and mental retardation are characteristic. Deficient plasma and tissue cholesterol and excess cholesterol precursors 7 and 8 dehydrocholesterol (7DHC and 8DHC) contribute to the pathogenesis. Cholesterol is transported to tissues via...

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Source

Identifiers

PMID: 15319461
DOI: 10.1203/01.PDR.0000141522.14177.4F

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.PMID 15319461Read ↗

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