Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Palmyre A et al.
Orphanet Journal of Rare Diseases, 2025
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.
Fujisawa H et al.
Bmc Nephrology, 2019
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 2017
Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.
Seo J et al.
Journal of Human Genetics, 2016
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP et al.
Journal of Medical Genetics, 2015
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
A case of minimal change disease in a Fabry patient.
Zarate YA et al.
Pediatric Nephrology (berlin, Germany), 2010
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.
Rohard I et al.
Journal of Inherited Metabolic Disease, 2008
Structure-function relationships in alpha-galactosidase A.
Garman SC
Acta Paediatrica (oslo, Norway : 1992), 2007
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.
Vedder AC et al.
Journal of Inherited Metabolic Disease, 2007
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta.
Linthorst GE et al.
Kidney International, 2004
The co-existence of Fabry and celiac diseases: a case report.
Tümer L et al.
Pediatric Nephrology (berlin, Germany), 2004
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Clinical manifestation in female Fabry disease patients.
Whybra C et al.
Contributions to Nephrology, 2001
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
Knol IE et al.
American Journal of Medical Genetics, 1999
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM et al.
Molecular Medicine (cambridge, Mass.), 1997
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Davies J et al.
Human Molecular Genetics, 1994
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
Glass RB et al.
Journal of Computer Assisted Tomography, 0