Browsing by Subject "Niemann-Pick Types A, B, /B"

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    • Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy 

      Jones, Simon A.; McGovern, Margaret M.; Lidove, Olivier; Giugliani, Roberto; Mistry, Pramod; Vici, Carlo Dionisi; Munõz Rojas, Maria Verônica; Nalysnyk, Lubomyra; Schecter, Alison D.; Wasserstein, Melissa P. (2020) [Journal article]
      Background: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and ...