Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review-Reference-Cited by-同舟云学术

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

Published:2016-08 Issue:4 Volume:118 Page:244-254
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Vanier Marie T.,Gissen Paul^ORCID,Bauer Peter,Coll Maria J.,Burlina Alberto,Hendriksz Christian J.,Latour Philippe,Goizet Cyril,Welford Richard W.D.,Marquardt Thorsten,Kolb Stefan A.

Funder

Actelion Pharmaceuticals Ltd.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference126 articles.

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3. Niemann-Pick disease type C;Vanier;Clin. Genet.,2003

4. Niemann-Pick disease type C;Vanier;Orphanet J. Rare Dis.,2010

5. Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport;te Vruchte;J. Biol. Chem.,2004

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