Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

A family with various symptomatology suggestive of Anderson–Fabry disease and a genetic polymorphism of alpha galactosidase A gene

(2015) Antonino Tuttolomondo et al.   CLINICAL BIOCHEMISTRY

Recommendations for Cardiac Chamber Quantification by Echocardiography in Adults: An Update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging

(2015) Roberto M. Lang et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Thromboembolic events in Fabry disease and the impact of factor V Leiden

(2015) M. Lenders et al.   NEUROLOGY

Recommendations for Cardiac Chamber Quantification by Echocardiography in Adults: An Update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging

(2015) Roberto M. Lang et al.   European Heart Journal-Cardiovascular Imaging

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

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

The Fabry Cardiomyopathy - Diagnostic Approach and Current Treatment

(2014) Frank Weidemann et al.   CURRENT PHARMACEUTICAL DESIGN

Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A-10T genotype

(2014) Michael Schelleckes et al.   Orphanet Journal of Rare Diseases

Characterization of Pain in Fabry Disease

(2013) Nurcan Üçeyler et al.   CLINICAL JOURNAL OF PAIN

Anderson-Fabry Disease: A Multiorgan Disease

(2013) Antonino Tuttolomondo et al.   CURRENT PHARMACEUTICAL DESIGN

Neurological Complications of Anderson-Fabry Disease

(2013) Antonino Tuttolomondo et al.   CURRENT PHARMACEUTICAL DESIGN

Two-dimensional speckle tracking as a non-invasive tool for identification of myocardial fibrosis in Fabry disease

(2013) Johannes Krämer et al.   EUROPEAN HEART JOURNAL

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening

(2013) Machtelt G. Bouwman et al.   MOLECULAR GENETICS AND METABOLISM

Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene

(2013) Malte Lenders et al.   PLoS One

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

(2010) Torquil Watt et al.   GENETICS IN MEDICINE

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

(2010) Tadayasu Togawa et al.   MOLECULAR GENETICS AND METABOLISM

Elevated proinflammatory cytokine expression in affected skin in small fiber neuropathy

(2010) N. Uceyler et al.   NEUROLOGY

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Reference data for quantitative sensory testing (QST): Refined stratification for age and a novel method for statistical comparison of group data

(2010) Walter Magerl et al.   PAIN

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

(2009) Hsiang-Yu Lin et al.   Circulation-Cardiovascular Genetics

Temporal Trends in Health-Related Quality of Life among Hemodialysis Patients in the United States

(2009) E. Gabbay et al.   Clinical Journal of the American Society of Nephrology

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

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease

(2009) C. Auray-Blais et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey

(2009) A Mehta et al.   JOURNAL OF MEDICAL GENETICS

Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

(2009) R. Schiffmann et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Progression of Left Ventricular Functional Abnormalities in Hypertensive Patients with Heart Failure: An Ultrasonic Two-Dimensional Speckle Tracking Study

(2008) Wojciech Kosmala et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma  -Galactosidase Assay as a Screening Test

(2007) J. Andrade et al.   Clinical Journal of the American Society of Nephrology