Associated Papers
Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.
Battaglia Y et al.
Renal Failure, 2025
Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.
Dunn PJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf
Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.
Paim-Marques L et al.
Pediatric Rheumatology Online Journal, 2021
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8
No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy.
de Greef BT et al.
Plos One, 2016
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