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

<p>Abstract</p> <p>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 <it>NPC1</it> gene (in 95% of cases) and the <it>NPC2</it> gene (in a...

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Auteurs principaux:	Walterfang Mark, Chien Yin-Hsiu, Imrie Jackie, Rushton Derren, Schubiger Danielle, Patterson Marc C
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2012-10-01
Collection:	Orphanet Journal of Rare Diseases
Sujets:	Niemann-Pick disease type C Dysphagia Mortality Swallowing Pneumonia Aspiration Miglustat.
Accès en ligne:	http://www.ojrd.com/content/7/1/76
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