TY - JOUR
T1 - Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
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
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://link.springer.com/article/10.1007%2Fs10545-013-9626-y
UR - https://www.scopus.com/pages/publications/84891835203
U2 - 10.1007/s10545-013-9626-y
DO - 10.1007/s10545-013-9626-y
M3 - Article
SN - 0141-8955
VL - 37
SP - 93
EP - 101
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 1
ER -