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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants

Fig. 1

Distribution of major organ involvement and typical Fabry signs in this Fabry female cohort (females with VUS excluded). Major organ included cardiac, renal, PNS, cerebrovascular and GI involvement; typical signs of FD were angiokeratoma, cornea verticillata, and elevated Lyso-Gb3. aX2 test. Abbreviations: FD, Fabry disease; GI, gastrointestinal; PNS, peripheral nervous system

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172