A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

BACKGROUND: 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. METHODS: An...

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Pubblicato in:BMC Pediatr
Autori principali: Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2016
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4957867/
https://ncbi.nlm.nih.gov/pubmed/27449637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-016-0641-7
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