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

PURPOSE OF REVIEW: 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 screenin...

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Опубликовано в: :Neurol Clin Pract
Главные авторы: Patterson, Marc C., Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M., Ory, Daniel S., Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T., Walterfang, Mark, Marquardt, Thorsten
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2017
Предметы:
Review
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5800709/
https://ncbi.nlm.nih.gov/pubmed/29431164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/CPJ.0000000000000399
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