Article
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Molecular genetics and metabolism - 1 Nov 2012
Hollak C E M, de Sonnaville E S V, Cassiman D, Linthorst G E, Groener J E, Morava E, Wevers R A, Mannens M, Aerts J M F G, Meersseman W, Akkerman E, Niezen-Koning K E, Mulder M F, Visser G, Wijburg F A, Lefeber D, Poorthuis B J H M
Abstract excerpt
Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more variable spectrum of manifestations. Enzyme replacement therapy (ERT) with recombinant...
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