TY - JOUR
T1 - Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C
AU - Wijburg, Frits
AU - Sedel, Frederic
AU - Pineda, Mercedes
AU - Hendriksz, Chris
AU - Fahey, Michael Collingwood
AU - Walterfang, Mark
AU - Patterson, Marc C
AU - Wraith, James Edmond
AU - Kolb, Stefan
PY - 2012
Y1 - 2012
N2 - Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C.
AB - Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive lysosomal lipid storage disorder that is invariably fatal. NP-C diagnosis can be delayed for years due to heterogeneous presentation; adult-onset NP-C can be particularly difficult to diagnose. We developed a Suspicion Index tool, ranking specific symptoms within and across domains, including family members who have NP-C, to provide a risk prediction score to identify patients who should undergo testing for NP-C.
UR - http://www.ncbi.nlm.nih.gov/pubmed/22517094
UR - https://www.scopus.com/pages/publications/84863594896
U2 - 10.1212/WNL.0b013e3182563b82
DO - 10.1212/WNL.0b013e3182563b82
M3 - Article
SN - 0028-3878
VL - 78
SP - 1560
EP - 1567
JO - Neurology
JF - Neurology
IS - 20
ER -