How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
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Podocyte pathology and nephropathy - sphingolipids in glomerular diseasesA distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapyMigalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.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 patientsSex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice.Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA geneNo Fabry Disease in Patients Presenting with Isolated Small Fiber NeuropathyLyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.Lipidomics of glycosphingolipids.Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.Extracellular matrix components: an intricate network of possible biomarkers for lysosomal storage disorders?Fabry disease: experience of screening dialysis patients for Fabry disease.Urinary proteomics and metabolomics in the diagnosis of pediatric disorders.Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.Fabry's disease: an example of cardiorenal syndrome type 5.Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.Pathomechanisms of renal Fabry disease.Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.Testing the feasibility of fully automated chip-based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease.Maternal inhaled fluticasone propionate intake during pregnancy is detected in neonatal cord blood.High-Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non-Methylated Gb3 Isoforms Using Tandem Mass Spectrometry.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.Fabry disease
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P2860
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
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2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@en
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@nl
type
label
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@en
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@nl
prefLabel
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@en
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@nl
P2093
P50
P1433
P1476
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
@en
P2093
Aimé Ntwari
Christiane Auray-Blais
David G Warnock
David S Millington
Joan M Keutzer
Joe T R Clarke
Michael L West
René Gagnon
Robin Casey
Sandra Sirrs
P304
P356
10.1016/J.CCA.2010.07.038
P577
2010-08-14T00:00:00Z