Article
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Molecular genetics and metabolism - 1 Jan 2000
Jones Simon A, McGovern Margaret, Lidove Olivier, Giugliani Roberto, Mistry Pramod K, Dionisi-Vici Carlo, Munoz-Rojas Maria-Veronica, Nalysnyk Lubomyra, Schecter Alison D, Wasserstein Melissa
Abstract excerpt
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 neurovisceral forms (intermediate type A/B), in addition to infantile, rapidly progressive fatal neurovisceral disease (type A). PURPOSE AND METHODS: We review the published evidence on the...
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