Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

Author:

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.

Funder

Dutch Top Institute Pharma

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Niemann–Pick disease types A and B: acid sphingomyelinase deficiencies;Schuchman,2001

2. Acid sphingomyelinase deficiency;McGovern,1993

3. Gaucher disease;Beutler,2001

4. Prevalence of lysosomal storage disorders;Meikle;JAMA,1999

5. The frequency of lysosomal storage diseases in The Netherlands;Poorthuis;Hum. Genet.,1999

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