Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals

Niemann-Pick disease type C (NPC) is a neurovisceral disorder associated with the accumulation of lipids such as cholesterol and sphingolipids. NPC is caused by either NPC1 or NPC2, which encode lysosomal proteins located at membraneous and soluble fractions, respectively. For the past decade, the o...

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Bibliographic Details
Published in:Mol Genet Metab Rep
Main Authors: Mashima, Ryuichi, Maekawa, Masamitsu, Narita, Aya, Okuyama, Torayuki, Mano, Nariyasu
Format: Artigo
Language:Inglês
Published: Elsevier 2018
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Short Communication
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6047109/
https://ncbi.nlm.nih.gov/pubmed/30023294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.03.005
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