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Article

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Archives of dermatological research - 1 Oct 2014

Menon G K, Orsó E, Aslanidis Charalampos, Crumrine D, Schmitz G, Elias Peter M

Abstract excerpt

Classic Refsum disease (RD) is a rare, autosomal recessively-inherited disorder of peroxisome metabolism due to a defect in the initial step in the alpha oxidation of phytanic acid (PA), a C16 saturated fatty acid with four methyl side groups, which accumulates in plasma and lipid enriched tissue...

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Identifiers

PMID: 24920240
DOI: 10.1007/s00403-014-1478-2
PMCID: PMC4169723

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24920240-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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