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

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 s...

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Veröffentlicht in:	Journal of genetic counseling 2008-12, Vol.17 (6), p.528-537
Hauptverfasser:	Gibas, Andrea L., Klatt, Regan, Johnson, Jack, Clarke, Joe T. R., Katz, Joel
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Carriers Clinical Psychology Disease management Ethics Fabry disease Fabry Disease - genetics Fabry Disease - physiopathology Fabry Disease - psychology Female Female heterozygotes Gender Genetic Carrier Screening Genetic disorders Gynecology Health care Health professionals Healthcare Human Genetics Humans Lysosomal storage disorder Medical treatment Original Research Patient Satisfaction Physician-Patient Relations Public Health Qualitative analysis Sex‐linked disease Women
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