Associated Papers
Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.
Laffer B et al.
Frontiers in Immunology, 2024
Neutralising anti-drug antibodies in Fabry disease can inhibit endothelial enzyme uptake and activity.
Stappers F et al.
Journal of Inherited Metabolic Disease, 2020
Fabry disease due to D313Y and novel GLA mutations.
Koulousios K et al.
Bmj Open, 2017
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
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