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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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia: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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