Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

OBJECTIVE: The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann-Pick disease type C (NP-C). The SI provides a risk prediction score (RPS) based on NP-C manifestations within and across domains (visceral, neurological, and psychiatric). The aim of the...

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Bibliografiska uppgifter
Huvudupphovsmän: Wraith, James E., Sedel, Frédéric, Pineda, Mercèdes, Wijburg, Frits A., Hendriksz, Christian J., Fahey, Michael, Walterfang, Mark, Patterson, Marc C., Chadha-Boreham, Harbajan, Kolb, Stefan A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Netherlands 2013
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Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3889645/
https://ncbi.nlm.nih.gov/pubmed/23793527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9626-y
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