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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer
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.
OriginalsprogEngelsk
TidsskriftEuropean journal of heart failure : journal of the Working Group on Heart Failure of the European Society of Cardiology
Vol/bind12
Udgave nummer6
Sider (fra-til)535-40
Antal sider6
DOI
StatusUdgivet - 1 jun. 2010

ID: 31012872