Associated Papers
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
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.
Chien YH et al.
Molecular Genetics and Metabolism, 2011
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Hwu WL et al.
Human Mutation, 2009
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