Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients
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Eliglustat tartrate for the treatment of adults with type 1 Gaucher diseaseImiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapyA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsModeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsPlasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyNewborn screening for lysosomal storage diseasesA novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases.Lipid and Glycolipid Isomer Analyses Using Ultra-High Resolution Ion Mobility Spectrometry SeparationsLysosomal diseases: diagnostic update.Gaucher disease and bone manifestations.Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseSuccessful newborn screening for Gaucher disease using fluorometric assay in China.Glucosylsphingosine Activates Serotonin Receptor 2a and 2b: Implication of a Novel Itch Signaling Pathway.Biomarkers in Lysosomal Storage DiseasesGlucosylsphingosine is a key biomarker of Gaucher disease.Identification and structural characterization of novel O- and N-glycoforms in the urine of a Schindler disease patient by Orbitrap mass spectrometry.Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease.A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum
P2860
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P2860
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@ast
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@en
type
label
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@ast
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@en
prefLabel
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@ast
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@en
P2093
P2860
P1433
P1476
Glucosylsphingosine is a highl ...... rt of Gaucher disease patients
@en
P2093
Ales Dudesek
Anja Röhle
Ari Zimran
Arndt Rolfs
Daniel Mascher
Deborah Elstein
Hermann Mascher
Matthias Wittstock
Rayk Hübner
P2860
P304
P356
10.1371/JOURNAL.PONE.0079732
P407
P577
2013-11-20T00:00:00Z