Ontology highlight
ABSTRACT:
SUBMITTER: Pineda M
PROVIDER: S-EPMC4957867 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
BMC pediatrics 20160722
<h4>Background</h4>Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood of NP-C; however, it was less reliable in patients aged <4 years.<h4>Methods</h4>An early-onset NP-C SI was constructed following retrospective chart review of symptom presentation in 200 patients from nine centres comprised of 106 NP-C cases, 31 non-cases and 63 controls. ...[more]