Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin

BACKGROUND: The lysosomal storage disorder, Niemann Pick type C1 (NPC1), presents a variable phenotype including neurovisceral and neurological symptoms. 2-Hydroxypropyl-ß-cyclodextrin (HPßCD)-based therapies are presently the most promising route of intervention. While severe cerebellar dysfunction...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Palladino, Giampiero, Loizzo, Stefano, Fortuna, Andrea, Canterini, Sonia, Palombi, Fioretta, Erickson, Robert P., Mangia, Franco, Fiorenza, Maria Teresa
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4603821/
https://ncbi.nlm.nih.gov/pubmed/26458950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0348-0
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