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Article

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Biochemical and biophysical research communications - 16 May 2008

Bruno Claudio, Bertini Enrico, Di Rocco Maja, Cassandrini Denise, Ruffa Giuseppe, De Toni Teresa, Seri Marco, Spada Marco, Li Volti Giovanni, D'Amico Adele, Trucco Federica, Arca Marcello, Casali Carlo, Angelini Corrado, Dimauro Salvatore, Minetti Carlo

Abstract excerpt

We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibe...

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Identifiers

PMID: 18339307
DOI: 10.1016/j.bbrc.2008.03.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18339307-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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