-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease
Author:
Publisher
Oxford University Press (OUP)
Subject
Transplantation,Nephrology
Link
http://academic.oup.com/ndt/article-pdf/18/8/1581/5237623/gfg194.pdf
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1. Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease;Molecular Genetics and Metabolism;2024-09
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3. Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome;Rare Genetic Disorders;2024
4. Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies;Circulation: Genomic and Precision Medicine;2023-12-04
5. The evolution of the initial manifestations and renal involvement of chinese patients with classical and late-onset Fabry disease at different sexes and ages;BMC Nephrology;2023-04-05
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