| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8626114 | International Journal of Developmental Neuroscience | 2018 | 6 Pages |
Abstract
Taken together, the present data show that cholestane-3β,5α,6β-triol analysis has a high potential to be an important NP-C screening assay, and also can be used for therapy monitorization with miglustat in NP-C patients.
Keywords
LSD7-KCLC/MS-MSNP-C7-KetocholesterolGC/MSROSLysosomal storage disorderOxysterolsSensitivityCNScentral nervous systemScreeninglow density lipoproteinLDLCSFCerebrospinal fluidMiglustatNiemann-Pick type CSpecificityLiquid chromatography/tandem mass spectrometrygas chromatography/mass spectrometryReactive oxygen species
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Authors
Tatiane Grazieli Hammerschmidt, Graziela de Oliveira Schmitt Ribas, Maria Luiza Saraiva-Pereira, Márcia Polese Bonatto, Rejane Gus Kessler, Fernanda Timm Seabra Souza, Franciele Trapp, Kristiane Michelin-Tirelli, Maira Graeff Burin, Roberto Giugliani,