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 (Ca2+) levels and the accumulation of unesterified cholesterol and sphingolipids within the late endocytic system char...

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Bibliographic Details
Main Authors:	Chen, OCW, Colaco, A, Davis, LC, Kiskin, FN, Farhat, NY, Speak, AO, Smith, DA, Morris, L, Eden, E, Tynan, P, Churchill. GC, Galione, A, Porter. FD, Platt, F
Format:	Journal article
Language:	English
Published:	Wiley 2020

Defective platelet function in Niemann‐Pick disease type C1

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