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Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.0264
Abstract: Anderson Fabry (AF) disease is a X-linked lysosomal storage disorder with multiorgan involvement. Cardiac disease, mainly represented by left ventricular hypertrophy (LVH) and arrhythmias, is the most frequent cause of premature death. It is well…
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Keywords:
early cardiac;
tissue;
tissue characterization;
cardiac involvement ... See more keywords
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Published in 2019 at "European heart journal cardiovascular Imaging"
DOI: 10.1093/ehjci/jez039
Abstract: AIMS Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with multi-organ dysfunction. While native myocardial T1 mapping by magnetic resonance (MR) allow non-invasive measurement of myocyte sphingolipid accumulation, 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography…
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Keywords:
magnetic resonance;
fabry disease;
positron emission;
anderson fabry ... See more keywords
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Published in 2017 at "Acta Radiologica"
DOI: 10.1177/0284185116675657
Abstract: Background Anderson-Fabry disease (AFD) is an X-linked lysosomal enzyme disorder associated with an intracellular accumulation of sphingolipids, which shorten myocardial T1 relaxation times. Myocardial affection, however, varies between different segments. Purpose To evaluate the specific…
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Keywords:
segment;
fabry disease;
affection;
non enhanced ... See more keywords
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Published in 2018 at "Journal of Cardiovascular Medicine"
DOI: 10.2459/jcm.0000000000000637
Abstract: Onset is usually in childhood. Often patients have slight builds with characteristic coarse facial features and delayed puberty. Early symptoms of burning pain and paraesthesia in the extremities (acroparaesthesia) are a major cause of morbidity.…
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Keywords:
medicine;
fabry disease;
disease;
decade ... See more keywords
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Published in 2021 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph18063320
Abstract: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder leading to a wide array of clinical manifestations. Among these, gastrointestinal (GI) symptoms such as abdominal pain, bloating, and diarrhea affect about half of the FD…
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Keywords:
narrative review;
fabry disease;
anderson fabry;
disease ... See more keywords