Associated Papers
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Functional characterization of novel variants found in patients with suspected Fabry disease.
Varela-Calais P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Newborn screening for Fabry disease in Oregon: Approaching the iceberg of A143T and variants of uncertain significance.
Viall S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA et al.
International Journal of Neonatal Screening, 2020
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Unknown
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