Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, ju...

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Bibliografiska uppgifter
Huvudupphovsmän: Marc C. Patterson, Peter T. Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi‐Vici, Hans-Hermann Klünemann, Philippe Latour, Charles Marques Lourenço, Daniel S. Ory, Alasdair Parker, Miguel Pocovı́, Michael Strupp, Marie T. Vanier, Mark Walterfang, Thorsten Marquardt
Materialtyp: Revisão
Språk:engelska
Publicerad: 2017
Länkar:https://doi.org/10.1212/cpj.0000000000000399
https://cp.neurology.org/content/neurclinpract/7/6/499.full.pdf
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https://doi.org/10.1212/cpj.0000000000000399
https://cp.neurology.org/content/neurclinpract/7/6/499.full.pdf

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