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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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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer Netherlands
2012
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| 主題: | |
| オンライン･アクセス: | 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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