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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...
Autores principales: | Walterfang, Mark, Chien, Yin-Hsiu, Imrie, Jackie, Rushton, Derren, Schubiger, Danielle, Patterson, Marc C |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3552828/ https://www.ncbi.nlm.nih.gov/pubmed/23039766 http://dx.doi.org/10.1186/1750-1172-7-76 |
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