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

Autor:	Pineda M, Mengel E, Jahnová H, Héron B, Imrie J, Lourenço CM, van der Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres JV, Kolb SA
Rok vydání:	2016
Předmět:	hemic and lymphatic diseases Diagnosis Diagnostics Early-onset Infant NP-C Niemann-Pick disease Type C Paediatric Screening Suspicion Index
Zdroj:	BMC PEDIATRICS r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname
ISSN:	1471-2431
Popis:	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
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2ef2ebba0bc25349806933e3da9be178 http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9983 Zobrazit plný text záznamu Full text from SpringerLink