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

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@article{ee7c43c4ee1343d2b9af4df16f55084d,
title = "Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women",
abstract = "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.",
author = "Ole Havndrup and Michael Christiansen and Birgitte Stoevring and Morten Jensen and Jakob Hofman-Bang and Andersen, {Paal Skytt} and Hasholt, {Lis Frydenreich} and Anne N{\o}rrem{\o}lle and Ulla Feldt-Rasmussen and Lars K{\o}ber and Henning Bundgaard",
year = "2010",
month = "6",
day = "1",
doi = "10.1093/eurjhf/hfq073",
language = "English",
volume = "12",
pages = "535--40",
journal = "European Journal of Heart Failure",
issn = "1388-9842",
publisher = "Wiley",
number = "6",

}

RIS

TY - JOUR

T1 - Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

AU - Havndrup, Ole

AU - Christiansen, Michael

AU - Stoevring, Birgitte

AU - Jensen, Morten

AU - Hofman-Bang, Jakob

AU - Andersen, Paal Skytt

AU - Hasholt, Lis Frydenreich

AU - Nørremølle, Anne

AU - Feldt-Rasmussen, Ulla

AU - Køber, Lars

AU - Bundgaard, Henning

PY - 2010/6/1

Y1 - 2010/6/1

N2 - 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.

AB - 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.

U2 - 10.1093/eurjhf/hfq073

DO - 10.1093/eurjhf/hfq073

M3 - Journal article

VL - 12

SP - 535

EP - 540

JO - European Journal of Heart Failure

JF - European Journal of Heart Failure

SN - 1388-9842

IS - 6

ER -

ID: 31012872