Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature revie...
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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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 to impaired intracellular lipid metabolism in a num...
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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
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TN_cdi_doaj_primary_oai_doaj_org_article_e9f889edf8874c13b233505fcac9c041
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e9f889edf8874c13b233505fcac9c041
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-76
