Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients-Reference-Cited by-同舟云学术

Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients

Published:2019-07-11 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Degtyareva Anna V.,Proshlyakova Tatiana Y.,Gautier Marina S.,Degtyarev Dmitry N.,Kamenets Elena A.,Baydakova Galina V.,Rebrikov Denis V.^ORCID,Zakharova Ekaterina Y.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-019-0857-0.pdf

Reference31 articles.

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3. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, et al. Recommendations for the diagnosis and management of Niemann-pick disease type C: an update. Mol Genet Metab. 2012;106:330–44.

4. Mengel E, Klünemann HH, Lourenco CM, Hendriksz CJ, Sedel F, Walterfang M, et al. Niemann-pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis. 2013;8:166.

5. Garver WS, Jelinek D, Meaney FJ, Flynn J, Pettit KM, Shepherd G, et al. The national Niemann-pick type C1 disease database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res. 2010;51:406–15.

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