title: Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
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.
authors.affiliation: Children's University Hospital Mainz, Mainz, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Wendt
authors.forename: C
authors.initials: C
authors.lastname: Whybra
authors.forename: C
authors.initials: C
authors.lastname: Kampmann
authors.forename: E
authors.initials: E
authors.lastname: Teichmann
authors.forename: M
authors.initials: M
authors.lastname: Beck
mesh_terms: D000328:Adult; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000150:complications / Q000628:therapy*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes / Q000627:therapeutic use; D016464:Lysosomal Storage Diseases / Q000150:complications / Q000628:therapy; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D011994:Recombinant Proteins; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000378:metabolism / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase