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Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease

15 Oct 2008

Abstract excerpt

Fabry disease is a multi-systemic X-linked genetic disorder which has progressive and deadly consequences for those it afflicts. Fabry disease symptoms are widely recognized as a substantive burden for affected males. In comparison, female heterozygotes have traditionally been viewed as relatively symptom-free, though a debate continues about whether and how much they suffer with the disease. Previous research...

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PMID: 18931895
DOI: 10.1007/s10897-008-9179-7

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