A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

BACKGROUND: Niemann-Pick disease type C1 (NPC1) is an autosomal-recessive lipid-storage disorder with an estimated minimal incidence of 1/120,000 live births. Besides other neuronal and visceral symptoms, NPC1 patients develop spleen dysfunction, isolated spleno- or hepatosplenomegaly and infections...

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Bibliografiske detaljer
Udgivet i:Lipids Health Dis
Main Authors: Neßlauer, Anna-Maria, Gläser, Anne, Gräler, Markus, Engelmann, Robby, Müller-Hilke, Brigitte, Frank, Marcus, Burstein, Christine, Rolfs, Arndt, Neidhardt, John, Wree, Andreas, Witt, Martin, Bräuer, Anja U.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6598286/
https://ncbi.nlm.nih.gov/pubmed/31248418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-019-1088-2
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