Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease-Reference-Cited by-同舟云学术

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease

Published:2016-12 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Walkley Steven U.,Davidson Cristin D.,Jacoby Jonathan,Marella Philip D.,Ottinger Elizabeth A.,Austin Christopher P.,Porter Forbes D.,Vite Charles H.,Ory Daniel S.

Funder

Dana's Angels Research Trust

Hide and Seek Foundation for Lysosomal Disease Research

Race for Adam

Fight NPC

Andrews Firefly Fund

Hadley Hope

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0540-x.pdf

Reference36 articles.

1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.

2. Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genet Med. 2015e-pub ahead of print Mar 12; 10.1038/gim.2015.25 .

3. Bauer P, Balding DJ, Klunemann HH, Linden DE, Ory DS, Pineda M, et al. Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. Hum Mol Genet. 2013;22(21):4349–56.

4. Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med. 2010;2(56):56ra81.

5. Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, et al. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Mol Genet Metab. 2016e-pub ahead of print Jun 7; 10.1016/j.ymgme.2016.06.004 .

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