Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

(2020) Susanne Seemann et al.   BIOCHEMICAL JOURNAL

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

(2019) Malte Lenders et al.   JOURNAL OF MEDICAL GENETICS

2018 ESC/ESH Guidelines for the management of arterial hypertension

(2018) Bryan Williams et al.   EUROPEAN HEART JOURNAL

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year

(2018) Jonas Müntze et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

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

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

(2017) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry DiseaseCLINICAL PERSPECTIVE

(2017) Daniel Oder et al.   Circulation-Cardiovascular Genetics

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up

(2015) M. Lenders et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2015) M. Lenders et al.   NEUROLOGY

Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis

(2014) Saskia M. Rombach et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry

(2013) Dominique P. Germain et al.   GENETICS IN MEDICINE

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

(2013) R. Giugliani et al.   MOLECULAR GENETICS AND METABOLISM

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

(2013) Jan Lukas et al.   PLoS Genetics

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

(2012) Dominique P Germain et al.   Orphanet Journal of Rare Diseases

Cardiovascular Events in Patients With Fabry Disease

(2011) Manesh R. Patel et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

(2010) Ole Havndrup et al.   EUROPEAN JOURNAL OF HEART FAILURE

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

(2009) Frank Weidemann et al.   CIRCULATION

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Agalsidase Alfa and Kidney Dysfunction in Fabry Disease

(2009) M. West et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

(2009) A Mehta et al.   LANCET

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

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

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

Fabry's disease

(2008) Yuri A Zarate et al.   LANCET

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

(2007) D A Hughes et al.   HEART