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 - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q35053231

about

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments Modeling 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 Programs Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study Newborn screening for lysosomal storage diseases A 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 Separations Lysosomal 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 disease Successful 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 Diseases Glucosylsphingosine 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

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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

http://www.wikidata.org/entity/Q35053231

description

2013 nî lūn-bûn

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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Glucosylsphingosine is a highl ...... rt of Gaucher disease patients

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Glucosylsphingosine is a highl ...... rt of Gaucher disease patients

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Daniel Mascher

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P2860

The human chitotriosidase gene. Nature of inherited enzyme deficiency

Involvement of CC chemokine ligand 18 (CCL18) in normal and pathological processes

Comparing the areas under two or more correlated receiver operating characteristic curves: a nonparametric approach

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

Receiver-operating characteristic (ROC) plots: a fundamental evaluation tool in clinical medicine.

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

PARC/CCL18 is a plasma CC chemokine with increased levels in childhood acute lymphoblastic leukemia.

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.

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Ulrike Grittner

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258924569

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