2005Journal of Inherited Metabolic DiseaseRequires access

Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa

S. Wendt, Catharina Whybra, Christoph Kampmann, E. Teichmann, Michael Beck

Open publisher page 36 citations

Abstract

Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy.

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What this paper is about

Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy.

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OpenAlex reports 36 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy.

Key concepts: Enzyme replacement therapy, Fabry disease, Medicine, Pregnancy, Disease, Multisystem disease, Alpha-galactosidase, Lysosomal storage disease

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