| Autor: |
Wijburg, F.A., Sedel, F., Pineda, M., Hendriksz, C.J., Fahey, M., Walterfang, M., Patterson, M.C., Wraith, J.E., Kolb, S.A. |
| Zdroj: |
Neurology (Ovid); May 2012, Vol. 78 Issue: 20 p1560-1567, 8p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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