Associated Papers
Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.
Grimaldi A et al.
International Journal of Molecular Sciences, 2025
Investigation of serum neurofilament light chain as a biomarker in Fabry disease.
Ponleitner M et al.
Scientific Reports, 2024
Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report.
Ponleitner M et al.
Frontiers in Genetics, 2023
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