Low ceruloplasmin in a patient with Niemann-Pick Type C disease
We present a 28-year-old woman with a diagnosis of Niemann-Pick type C disease which was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper. This report supports the hypothesis that NPC1 could play a role in copper metabolism.
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| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
April 2012
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| In: |
Journal of clinical neuroscience
Year: 2012, Jahrgang: 19, Heft: 4, Pages: 620-621 |
| ISSN: | 1532-2653 |
| DOI: | 10.1016/j.jocn.2011.05.038 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1016/j.jocn.2011.05.038 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0967586811005303 
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| Verfasserangaben: | Bernhard J. Connemann, Maximilian Gahr, Markus Schmid, Heiko Runz, Roland W. Freudenmann |
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| 520 | |a We present a 28-year-old woman with a diagnosis of Niemann-Pick type C disease which was initially diagnosed as Wilson disease due to low serum ceruloplasmin and elevated free copper. This report supports the hypothesis that NPC1 could play a role in copper metabolism. | ||
| 650 | 4 | |a Autosomal recessive copper disease | |
| 650 | 4 | |a Lysosomal storage disease | |
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