Migalastat: A Review in Fabry Disease

Fabry disease revisited: Management and treatment recommendations for adult patients

(2018) Alberto Ortiz et al.   MOLECULAR GENETICS AND METABOLISM

SP002CLINICAL OUTCOMES WITH MIGALASTAT IN PATIENTS WITH FABRY DISEASE BASED ON DEGREE OF RENAL IMPAIRMENT: RESULTS FROM PHASE 3 TRIALS

(2018) Roser Torra et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age

(2018) Lothar Hauth et al.   Frontiers in Neurology

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

(2018) Dominique P. Germain et al.   Molecular Genetics & Genomic Medicine

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

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

(2017) Raphael Schiffmann et al.   KIDNEY INTERNATIONAL

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease

(2017) Antonino Tuttolomondo et al.   Oncotarget

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

(2017) Fedah E. Mohamed et al.   Frontiers in Pharmacology

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

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

(2016) Maarten Arends et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

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

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

(2016) Malte Lenders et al.   Orphanet Journal of Rare Diseases

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Mosaicism of Podocyte Involvement Is Related to Podocyte Injury in Females with Fabry Disease

(2014) Michael Mauer et al.   PLoS One

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

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

(2013) Brandy Young-Gqamana et al.   PLoS One

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Effects of enzyme replacement therapy in Fabry disease—A comprehensive review of the medical literature

(2010) Olivier Lidove et al.   GENETICS IN MEDICINE

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

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

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

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease

(2008) S. Ishii et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS