Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

doi:10.1186/s13023-017-0646-9

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Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Orphanet journal of rare diseases - 12 May 2017

Pennisi Elena Maria, Arca Marcello, Bertini Enrico, Bruno Claudio, Cassandrini Denise, D'amico Adele, Garibaldi Matteo, Gragnani Francesca, Maggi Lorenzo, Massa Roberto, Missaglia Sara, Morandi Lucia, Musumeci Olimpia, Pegoraro Elena, Rastelli Emanuele, Santorelli Filippo Maria, Tasca Elisabetta, Tavian Daniela, Toscano Antonio, Angelini Corrado

Abstract excerpt

BACKGROUND: A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and...

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Identifiers

PMID: 28499397
DOI: 10.1186/s13023-017-0646-9
PMCID: PMC5427600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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