Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations
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- 作者：Milena Romanelloa ; romanello.milena@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Stefania Zampieria ; zampieri.stefania@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Nadia Bortolottib ; bortolotti.nadia@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Laura Deromaa ; deroma.laura@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Annalisa Sechia ; sechi.annalisa@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Agata Fiumarac ; agatafiumara@yahoo.it" class="auth_mail" title="E-mail the corresponding author ; Rossella Parinid ; rossella.parini@unimib.it" class="auth_mail" title="E-mail the corresponding author ; Barbara Borronie ; barbara.borroni@unibs.it" class="auth_mail" title="E-mail the corresponding author ; Francesco Brancatif ; f.brancati@igenetica.com" class="auth_mail" title="E-mail the corresponding author ; Amalia Brunig ; bruni@arn.it" class="auth_mail" title="E-mail the corresponding author ; Cinzia V. Russoh ; cinziavaleria@hotmail.it" class="auth_mail" title="E-mail the corresponding author ; Andrea Bordugoi ; abordugo@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; Bruno Bembia ; bembi.bruno@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author ; Andrea Dardisa ; dardis.andrea@aoud.sanita.fvg.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：Oxysterols ; Niemann-Pick ; Liquid chromatography-tandem&ndash ; mass spectrometry ; Variant biochemical phenotype
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 April 2016
- 年：2016
- 卷：455
- 期：Complete
- 页码：39-45
- 全文大小：670 K
文摘
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Plasma oxysterols measurement: a rapid, non invasive method for the screening of NPCD
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Plasma oxysterols measurement in NPC patients expressing a variant biochemical phenotype
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3β,5α,6β-triol and 7-KC are elevated in patients affected by NPBD