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Article

Genetic analysis of phytosterolaemia.

Journal of inherited metabolic disease - 1 Feb 2001

Togo M, Toda T, Nguyen L A, Kubota S, Tsukamoto K, Satoh H, Hara M, Iso-o N, Noto H, Kimura S, Nakahara K, Seyama Y, Hashimoto Y

Abstract excerpt

Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolaemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of beta-sitosterol, campesterol and sitostanol. The gene responsible for this disease is l...

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Identifiers

PMID: 11286381
DOI: 10.1023/a:1005650605042

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11286381-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Genetic analysis of phytosterolaemia.PMID 11286381Read ↗

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