which causes sphingomyelin to build up in the cells, which in turn interferes with the function of several organs in the body. All of the types of Niemann-Pick disease are autosomal recessive ...

Mutations in NPC1 cause Niemann-Pick Type C. Mice lacking NPC1 only in microglia ... only in myeloid cells could recapitulate many aspects of the disease. Their findings indicate these cells play a ...

Zevra Therapeutics' Miplyffa has become the first medicine to be approved by the FDA for the ultra-rare genetic disorder Niemann-Pick disease ... other lipids within cells. That leads to the ...

a group of genetic disorders also known as Niemann-Pick disease, in which a fatty substance called sphingomyelin builds up in cells and caused them to die, disrupting tissue and organ function.