Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
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- 作者：Marie T. Vaniera ; b ; marie-t.vanier@inserm.fr" class="auth_mail" title="E-mail the corresponding author ; vaniermtv@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Paul Gissenc ; d ; p.gissen@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author ; Peter Bauere ; peter.bauer@med.uni-tuebingen.de" class="auth_mail" title="E-mail the corresponding author ; Maria J. Collf ; g ; mjcoll@clinic.ub.es" class="auth_mail" title="E-mail the corresponding author ; Alberto Burlinah ; alberto.burlina@unipd.it" class="auth_mail" title="E-mail the corresponding author ; Christian J. Hendrikszi ; j ; chris.hendriksz@srft.nhs.uk" class="auth_mail" title="E-mail the corresponding author ; Philippe Latourk ; philippe.latour@chu-lyon.fr" class="auth_mail" title="E-mail the corresponding author ; Cyril Goizetl ; m ; cyril.goizet@chu-bordeaux.fr" class="auth_mail" title="E-mail the corresponding author ; Richard W.D. Welfordn ; richard.welford@actelion.com" class="auth_mail" title="E-mail the corresponding author ; Thorsten Marquardto ; thorsten.marquardt@ukmuenster.de" class="auth_mail" title="E-mail the corresponding author ; Stefan A. Kolbn ; stefan.kolb@actelion.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：7-KC ; 7-Ketocholesterol ; ACAT ; Acyl-CoA ; cholesterol acyltransferase ; ASMDs ; Acid sphingomyelinase deficiencies ; BMP ; Bis(monoacylglycero)phosphate ; C-triol ; Cholestane-3β ; 5α ; 6β-triol ; EOA ; Early-onset ataxia ; GC/MS ; Gas chromatography&ndash ; mass spectrometry ; HPLC ; High performance liquid chromatography ; L ; Lysosome ; LC-MS/MS ; Liquid chromatography-tandem mass spectrometry ; LDL ; Low density lipoprotein ; LE ; Late endosome ; LPDS ; Lipoprotein-deficient serum ; LSDs ; Lysosomal storage disorders ; lyso
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：118
- 期：4
- 页码：244-254
- 全文大小：469 K
文摘
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NP-C: heterogenous neurovisceral lipid storage disorder; mutations in NPC1 or NPC2
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Neonatal cholestasis, splenomegaly, ataxia, vertical gaze palsy, neurodegeneration
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‘Filipin test’ evaluates abnormalities of lysosomal cholesterol trafficking/egress.
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Several newly developed plasma biomarkers allow inexpensive first screening tests.
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Wide accessibility of biomarker analysis and gene sequencing will improve diagnosis.