Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
A 1-Bag/4-Step Rapid Desensitization Protocol to Reintroduce Agalsidase α in a Patient With Fabry Disease.
Jimenez-Rodriguez TW et al.
Journal of Investigational Allergology & Clinical Immunology, 2025
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 › Classic
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.
Mendes de Almeida R et al.
Plos One, 2017
Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.
Qiu H et al.
Protein Science : a Publication of the Protein Society, 2015
Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.
Brito D et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2014
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