Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

BACKGROUND: Niemann–Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effec...

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Vydáno v:J Med Case Rep
Hlavní autoři: Cuisset, Jean-Marie, Sukno, S., Trauffler, A., Latour, P., Dobbelaere, D., Michaud, L., Vallée, L.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011888/
https://ncbi.nlm.nih.gov/pubmed/27599728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-1038-9
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