Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

BACKGROUND: Niemann-Pick disease Type C (NP-C) is a lysosomal lipid storage disorder with varying symptomatology depending on the age of onset. The diagnosis of NP-C is challenging due to heterogeneous nonspecific clinical presentation of the disease. NP-C Suspicion Index (SI) was developed to aid s...

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Detalles Bibliográficos
Autores principales: Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6604407/
https://www.ncbi.nlm.nih.gov/pubmed/31266511
http://dx.doi.org/10.1186/s13023-019-1124-3

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