Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

(2018) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

(2017) Michael Mauer et al.   JOURNAL OF MEDICAL GENETICS

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

(2016) Fahad J. Alharbi et al.   JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY

Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis

(2016) Uma Ramaswami et al.   MOLECULAR GENETICS AND METABOLISM

Globotriaosylsphingosine (lyso-GB3) as useful marker for monitoring initial therapeutic outcomes of enzyme replacement therapy for patients with Fabry disease

(2016) Elena Verrecchia et al.   MOLECULAR GENETICS AND METABOLISM

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

(2016) Michael Beck et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of Fabry disease in male and female patients with the N215S genotype

(2016) Dominique P. Germain et al.   MOLECULAR GENETICS AND METABOLISM

Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort

(2016) Maarten Arends et al.   MOLECULAR GENETICS AND METABOLISM

Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy

(2016) Brent Fall et al.   PLoS One

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

(2016) Behzad Najafian et al.   PLoS One

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

(2015) Christiane Auray-Blais et al.   CLINICA CHIMICA ACTA

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

(2015) Bouwien E Smid et al.   JOURNAL OF MEDICAL GENETICS

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

(2015) Michael Beck et al.   MOLECULAR GENETICS AND METABOLISM

The N215S mutation results in a distinct subtype of Fabry disease

(2015) Alison Thomas et al.   MOLECULAR GENETICS AND METABOLISM

Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results

(2015) Derralynn Hughes et al.   MOLECULAR GENETICS AND METABOLISM

Long term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy

(2015) Douglas G.J. McKechnie et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

(2015) Marieke Biegstraaten et al.   Orphanet Journal of Rare Diseases

Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb3-Related Analogues in Fabry Disease

(2014) Michel Boutin et al.   ANALYTICAL CHEMISTRY

Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease

(2014) M. Niemann et al.   Circulation-Cardiovascular Genetics

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

(2014) B.E. Smid et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Multiplex Analysis of Novel Urinary Lyso-Gb3-Related Biomarkers for Fabry Disease by Tandem Mass Spectrometry

(2012) Pamela Lavoie et al.   ANALYTICAL CHEMISTRY

LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

(2012) Michel Boutin et al.   CLINICA CHIMICA ACTA

Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography-Tandem Mass Spectrometry

(2012) H. Gold et al.   CLINICAL CHEMISTRY

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

(2010) Mariëlle J. van Breemen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

(2010) Behzad Najafian et al.   KIDNEY INTERNATIONAL

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

Fabry's disease

(2008) Yuri A Zarate et al.   LANCET