Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature
Author:
Funder
Indian Council of Medical Research
FRIGE’s Institute of Human Genetics
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0367-x.pdf
Reference23 articles.
1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.
2. Cheruku SR, Xu Z, Dutia R, Lobel P, Storch J. Mechanism of cholesterol transfer from the Niemann-Pick type C2 protein to model membranes supports a role in lysosomal transport. J Biol Chem. 2006;281:31594–604.
3. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000;290:2298–301.
4. Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci U S A. 1985;82:8247–51.
5. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F. NP-C Guidelines Working Group.; Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.
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