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doi.org/10.1055/s-2003-44668, hdl.handle.net/1765/67717
Neuropediatrics
Department of Clinical Genetics

Harzer, K, Rolfs, A, Bauer, P, Zschiesche, M, Mengel, E, Backes, J.M, … Krägeloh-Mann, I. (2003). Niemann-Pick Disease Type A and B are Clinically but also Enzymatically Heterogeneous: Pitfall in the Laboratory Diagnosis of Sphingomyelinase Deficiency Associated with the Mutation Q292 K. Neuropediatrics, 34(6), 301–306. doi:10.1055/s-2003-44668