Associated Papers
Inner retinal hyper-reflective foci number correlates with flood-illumination adaptive optics ophthalmoscopy grading and systemic organ involvement in patients with Fabry disease.
Bacherini D et al.
Eye (london, England), 2025
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.
Nowak A et al.
Scientific Reports, 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
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