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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653256/
https://www.ncbi.nlm.nih.gov/pubmed/33204596
http://dx.doi.org/10.1002/jmd2.12148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653256/
https://www.ncbi.nlm.nih.gov/pubmed/33204596
http://dx.doi.org/10.1002/jmd2.12148

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