Associated Papers
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.
Cui S et al.
Journal of Translational Medicine, 2023
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
33835733 (PubMed )
Supplement: MGG3-9-e1666-s001.docx
Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Chong Y et al.
Bmc Medical Genetics, 2016
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Urinary Myeloid Bodies as a Biomarker for Early Diagnosis and Monitoring of Enzyme Replacement Therapy in Fabry Disease.
Yang J et al.
Kidney Diseases (basel, Switzerland), 0
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