Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy.


Miguel Ángel Barba-Romero


Internal Medicine Department, Complejo Hospitalario y Universitario de Albacete, Castilla-La Mancha University, Albacete, Spain. Electronic address: [Email]


Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the α-galactosidase A enzyme. Although women were historically considered only carriers, many studies have contradicted this fact. The main aim of this work was to set the first Spanish study out of the on-going registries on health status and management of women diagnosed with FD who were not receiving enzyme replacement therapy (ERT).


Anderson-Fabry disease,Enfermedad de Anderson-Fabry,Enzyme replacement therapy,Neurological symptomatology,Sintomatología neurológica,Terapia de sustitución enzimática,

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