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...

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Detalles Bibliográficos
Publicado en:JIMD Rep
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2020
Assuntos:
Research Reports
Acceso en liña: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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