Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 'Classic' and the Type 2 'Later-Onset' phenotypes. To identify previously unrecognised patients, investigators screened cardiac, renal and stroke clinics by enzyme assays. However, some screening studies did not perform confirmatory GLA mutation analyses, and many included recently recognised 'benign/likely-benign' variants, thereby inflating prevalence estimates. Online databases were searched for all FD screening studies in high-risk clinics (1995-2017). Studies reporting GLA mutations were re-analysed for pathogenic mutations, sex and phenotype. Phenotype-specific and sex-specific prevalence rates were determined. Of 67 studies, 63 that screened 51363patients (33943M and 17420F) and provided GLA mutations were reanalysed for disease-causing mutations. Of reported GLA mutations, benign variants occurred in 47.9% of males and 74.1% of females. The following were the revised prevalence estimates: among 36820 (23954M and 12866F) haemodialysis screenees, 0.21% males and 0.15% females; among 3074 (2031M and 1043F) renal transplant screenees, 0.25% males and no females;...Continue Reading
alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma
Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke
Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population
Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test
Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution
Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients
Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.
High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients
Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.
No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young
p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.
Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Comment on 'p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males'
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack
Prevalence of Fabry disease among Turkish dialysis patients: Data from hemodialysis centers in Bursa province
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
The Prevalence of Fabry Disease in Patients with Chronic Kidney Disease in Turkey: The TURKFAB Study
Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults
Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?
Preliminary Screening Results of Fabry Disease in Kidney Transplantation Patients: A Single-Center Study
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Auditing the frequency and the clinical and economic impact of testing for Fabry disease in patients under the age of 70 with a stroke admitted to Saint Vincent's University Hospital over a 6-month period
Prevalence of Fabry Disease and Outcomes in Young Canadian Patients With Cryptogenic Ischemic Cerebrovascular Events
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy
Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study
A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Harvey Feigenbaum, MD, and the Creation of Clinical Echocardiography: A Conversation With Barry J. Maron, MD
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019
The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts
The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia
Screening for Fabry disease in unknown origin axonal polyneuropathy: to do or not to do, this is the question!
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat
Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study.
Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis.
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