Article
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.
Journal of inherited metabolic disease - 1 Jan 2014
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
Abstract excerpt
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 these subanalyses was to further examine the discriminatory power of the SI by age and manifestation-associations by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
