| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833528 | Molecular Genetics and Metabolism | 2012 | 8 Pages |
Abstract
⺠25 patients with ASM deficiency are identified in the Netherlands and Belgium. ⺠Prominent symptoms are hepatosplenomegaly, thrombocytopenia and pulmonary disease. ⺠In 4 NPD-B patients, disease parameters remained stable up to 6 years. ⺠Bone marrow fat fractions are decreased. ⺠Extensive pulmonary disease can be present in cases with mild visceromegaly.
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Authors
C.E.M. Hollak, E.S.V. de Sonnaville, D. Cassiman, G.E. Linthorst, J.E. Groener, E. Morava, R.A. Wevers, M. Mannens, J.M.F.G. Aerts, W. Meersseman, E. Akkerman, K.E. Niezen-Koning, M.F. Mulder, G. Visser, F.A. Wijburg, D. Lefeber, B.J.H.M. Poorthuis,