Scatter plots illustrate quantification of Gb3 load in CD77 stains of skin punch biopsy specimens from the lower leg of patients with Fabry disease (FD) of classical and non-classical phenotype stratified for gender.

<p>Skin Gb3 load is higher in male and female FD patients with classical phenotype compared to respective healthy controls. Patients with non-classical phenotype do not differ from controls and only one patient out of seven exceeded the threshold of >0.05% ROI Gb3 deposition in distal skin. Number of subjects from left to right: n = 32, n = 2, n = 5, n = 39, n = 5, n = 10, n = 11. Abbreviations: Co = controls; F = female; Gb3 = globotriaosylceramide 3; M = male; ROI: investigated region of interest on skin punch biopsy specimens; SFN = small fiber neuropathy. *p<0.05, **p<0.01.