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Rigshospitalet - a part of Copenhagen University Hospital
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Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

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DOI

  1. Regional variation in out-of-hospital cardiac arrest: incidence and survival - a nationwide study of regions in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

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  3. Time in therapeutic range and risk of thromboembolism and bleeding in patients with a mechanical heart valve prosthesis

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Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically tested for.
Original languageEnglish
JournalEuropean journal of heart failure : journal of the Working Group on Heart Failure of the European Society of Cardiology
Volume12
Issue number6
Pages (from-to)535-40
Number of pages6
DOIs
Publication statusPublished - 1 Jun 2010

ID: 31012872