Prevalence of symptoms in female Fabry disease patients: a case-control survey

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by a deficiency of α-galactosidase A. Several studies demonstrated that heterozygotes have symptoms such as acroparesthesia, abdominal pain and chronic fatigue. However, as these symptoms are aspecific and relatively co...

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Bibliografske podrobnosti
Main Authors: Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Format: Artigo
Jezik:Inglês
Izdano: Springer Netherlands 2012
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3432199/
https://ncbi.nlm.nih.gov/pubmed/22431073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9447-9
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