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

2003-12-01

Neuropediatrics , Volume 34 - Issue 6 p. 301- 306

Additional Metadata
Keywords	Classification, Mutation, Niemann-Pick disease, Sphingomyelinase, Synthetic substrate
Persistent URL	doi.org/10.1055/s-2003-44668, hdl.handle.net/1765/67717
Journal	Neuropediatrics
Organisation	Department of Clinical Genetics
Citation APA APA Style APA-ALL Style AAA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Harzer, K., Rolfs, A., Bauer, P., Zschiesche, M., Mengel, E., Backes, J., Kustermann-Kuhn, B., Bruchelt, G., van Diggelen, O., Mayrhofer, H.& 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.https://doi.org/10.1055/s-2003-44668

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