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Niemann-Pick disease type C

Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical spectrum ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. The neurological inv...

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Detalles Bibliográficos
Autor principal: Vanier, Marie T
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2902432/
https://www.ncbi.nlm.nih.gov/pubmed/20525256
http://dx.doi.org/10.1186/1750-1172-5-16