Associated Papers
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
Jurickova K et al.
Journal of Personalized Medicine, 2022
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
Doheny D et al.
Journal of Medical Genetics, 2018
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