Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients-Reference-Cited by-同舟云学术

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

Published:2017-05-12 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Pennisi Elena Maria^ORCID, ,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

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0646-9.pdf

Reference28 articles.

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2. Fischer J, Lefèvre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007;39(1):28–30.

3. Lefevre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001;69:1002–12.