Article
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Romanian journal of internal medicine = Revue roumaine de medecine interne - 1 Dec 2024
Mursă Adriana, Militaru Sebastian, Rusu Elena, Onciul Sebastian, Neculae Gabriela, Adam Robert, Ciobotaru Lucia, Stefănescu Vlad, Dulămea Adriana, Rădoi Viorica, Popescu Bogdan Alexandru, Ismail Gener, Jurcuţ Ruxandra
Abstract excerpt
Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population. This study included all consecutive patients diagnosed with FD referred to...
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