Associated Papers
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 2022
Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease.
Kim IY et al.
Kidney Research and Clinical Practice, 2021
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
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
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Non-Classic
Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.
Tøndel C et al.
Nephron, 2015
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Lubanda JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy.
Teragaki M et al.
Japanese Heart Journal, 2004
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