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

James Edmond Wraith, Frederic Sedel, Mercedes Pineda, Frits Wijburg, Chris Hendriksz, Michael Collingwood Fahey, Mark Walterfang, Marc C Patterson, Harbajan Chadha-Boreham, Stefan Kolb

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28 Citations (Scopus)

Abstract

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 these subanalyses was to further examine the discriminatory power of the SI by age and manifestation-associations by NP-C suspicion-level and leading manifestations.
Original languageEnglish
Pages (from-to)93 - 101
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume37
Issue number1
DOIs
Publication statusPublished - 2014

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