Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological deterioration and premature death, and has an estimated birth incidence of 1:120,000. Mutations in the NPC1 gene (in 95% of cases) and the NPC2 gene (in approximately 4% of cases) give rise t...

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Detalhes bibliográficos
Main Authors: Walterfang, Mark, Chien, Yin-Hsiu, Imrie, Jackie, Rushton, Derren, Schubiger, Danielle, Patterson, Marc C
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3552828/
https://ncbi.nlm.nih.gov/pubmed/23039766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-76
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