Defective platelet function in Niemann‐Pick disease type C1

Niemann‐Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2. Reduced late endosome/lysosome calcium (Ca(2+)) levels and the accumulation of unesterified cholesterol and sphingolipids within the late endocytic system ch...

詳細記述

保存先:
書誌詳細
出版年:JIMD Rep
主要な著者: Chen, Oscar C. W., Colaco, Alexandria, Davis, Lianne C., Kiskin, Fedir N., Farhat, Nicole Y., Speak, Anneliese O., Smith, David A., Morris, Lauren, Eden, Emily, Tynan, Patricia, Churchill, Grant C., Galione, Antony, Porter, Forbes D., Platt, Frances M.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
Research Reports
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7653256/
https://ncbi.nlm.nih.gov/pubmed/33204596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12148
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