Neutral lipid storage disease: Difference between revisions
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It can be associated with ''[[CGI58]]''.<ref name="pmid11590543">{{cite journal |author=Lefèvre C, Jobard F, Caux F, ''et al.'' |title=Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome |journal=Am. J. Hum. Genet. |volume=69 |issue=5 |pages=1002–12 |year=2001 |month=November |pmid=11590543 |pmc=1274347 |doi=10.1086/324121 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61316-0}}</ref> | It can be associated with ''[[CGI58]]''.<ref name="pmid11590543">{{cite journal |author=Lefèvre C, Jobard F, Caux F, ''et al.'' |title=Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome |journal=Am. J. Hum. Genet. |volume=69 |issue=5 |pages=1002–12 |year=2001 |month=November |pmid=11590543 |pmc=1274347 |doi=10.1086/324121 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61316-0}}</ref> | ||
==References== | ==References== | ||
Latest revision as of 16:19, 13 August 2012
| Neutral lipid storage disease | |
| Classification and external resources | |
| File:Chanarin-Dorfman Syndrome smear 2009-11-13.JPG | |
|---|---|
| OMIM | 275630 |
| DiseasesDB | 32708 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Chanarin-Dorfman syndrome
Overview
Neutral lipid storage disease is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.[1]:502[2]:564
It can be associated with CGI58.[3]
References
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Lefèvre C, Jobard F, Caux F; et al. (2001). "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome". Am. J. Hum. Genet. 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347. PMID 11590543. Unknown parameter
|month=ignored (help)