Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

Niemann‐Pick disease type C (NPC) and Tangier disease are genetically and clinically distinct rare inborn errors of metabolism. NPC is caused by defects in either NPC1 or NPC2; whereas Tangier disease is caused by a defect in ABCA1. Tangier disease is currently without therapy, whereas NPC can be tr...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Colaco, Alexandria, Kaya, Ecem, Adriaenssens, Elias, Davis, Lianne C., Zampieri, Stefania, Fernández‐Suárez, María E., Tan, Chong Y., Deegan, Patrick B., Porter, Forbes D., Galione, Antony, Bembi, Bruno, Dardis, Andrea, Platt, Frances M.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2019
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7317544/
https://ncbi.nlm.nih.gov/pubmed/31707734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12191
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