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Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
INTRODUCTION: Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on disease course and response to miglustat therapy is not currentl...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3514393/ https://ncbi.nlm.nih.gov/pubmed/23146215 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-6-383 |
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