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

Research output: Contribution to journalArticleResearchpeer-review

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

Cite this

Wraith, James Edmond ; Sedel, Frederic ; Pineda, Mercedes ; Wijburg, Frits ; Hendriksz, Chris ; Fahey, Michael Collingwood ; Walterfang, Mark ; Patterson, Marc C ; Chadha-Boreham, Harbajan ; Kolb, Stefan. / Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. In: Journal of Inherited Metabolic Disease. 2014 ; Vol. 37, No. 1. pp. 93 - 101.
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author = "Wraith, {James Edmond} and Frederic Sedel and Mercedes Pineda and Frits Wijburg and Chris Hendriksz and Fahey, {Michael Collingwood} and Mark Walterfang and Patterson, {Marc C} and Harbajan Chadha-Boreham and Stefan Kolb",
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Wraith, JE, Sedel, F, Pineda, M, Wijburg, F, Hendriksz, C, Fahey, MC, Walterfang, M, Patterson, MC, Chadha-Boreham, H & Kolb, S 2014, 'Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations' Journal of Inherited Metabolic Disease, vol. 37, no. 1, pp. 93 - 101. https://doi.org/10.1007/s10545-013-9626-y

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. / Wraith, James Edmond; Sedel, Frederic; Pineda, Mercedes; Wijburg, Frits; Hendriksz, Chris; Fahey, Michael Collingwood; Walterfang, Mark; Patterson, Marc C; Chadha-Boreham, Harbajan; Kolb, Stefan.

In: Journal of Inherited Metabolic Disease, Vol. 37, No. 1, 2014, p. 93 - 101.

Research output: Contribution to journalArticleResearchpeer-review

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AU - Wraith, James Edmond

AU - Sedel, Frederic

AU - Pineda, Mercedes

AU - Wijburg, Frits

AU - Hendriksz, Chris

AU - Fahey, Michael Collingwood

AU - Walterfang, Mark

AU - Patterson, Marc C

AU - Chadha-Boreham, Harbajan

AU - Kolb, Stefan

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DO - 10.1007/s10545-013-9626-y

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SP - 93

EP - 101

JO - Journal of Inherited Metabolic Disease

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