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1. Anderson W. A case of “ANGEIO-KERATOMA”. Br J Dermatol 1898;10:113-7.

2. Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae) Arch Dermatol Syph 1898;43:187-200.

3. de Duve C. Tissue fraction-past and present. J Cell Biol 1971;50:20.

4. Brady RO, Gal AE, Bradley RM, Martenson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7.

5. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46.

6. Schiffmann R. Investigating Fabry disease - some lessons learned. Rare Dis Orphan Drugs J 2024;3:4.

7. Feriozzi S, Rozenfeld P. The inflammatory pathogenetic pathways of Fabry nephropathy. Rare Dis Orphan Drugs J 2024;3:11.

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Rare Disease and Orphan Drugs Journal
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