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Article

Clinical phenotype of lathosterolosis.

American journal of medical genetics. Part A - 15 Oct 2007

Rossi Massimiliano, D'Armiento Maria, Parisi Ida, Ferrari Paola, Hall Christine M, Cervasio Mariarosaria, Rivasi Francesco, Balli Fiorella, Vecchione Raffaella, Corso Gaetano, Andria Generoso, Parenti Giancarlo

Abstract excerpt

Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase. Only two patients have been described to date, both presenting with multiple malformations, mental retardation, and liver involvement. In addition in one of them pathological examination revealed mucolipidosis-like inclusions on optic microscopy analysis, and peculiar lysosomal lamellar bodies on...

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Identifiers

PMID: 17853487
DOI: 10.1002/ajmg.a.31929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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