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Titel:

Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.

Dokumenttyp:
Review; Journal Article; Review
Autor(en):
Regenbogen, Claudia; Braunisch, Matthias Christoph; Schmaderer, Christoph; Heemann, Uwe
Abstract:
Fabry disease (FD) is a rare X chromosomally transmitted lysosomal storage disorders with an absence or deficiency of the enzyme alpha-galactosidase. The deposition of globotriaosylceramide (Gb3) may cause damage to all organs, particularly brain, heart and kidney. While acroparaesthesia, hypo- or anhydrosis and diarrhoea are the main symptoms in childhood, cardiac involvement with left ventricular hypertrophy (LVH), renal insufficiency, diffuse pain attacks and apoplexy are the main symptoms in...     »
Zeitschriftentitel:
Cardiovasc Diagn Ther
Jahr:
2021
Band / Volume:
11
Heft / Issue:
2
Seitenangaben Beitrag:
661-671
Volltext / DOI:
doi:10.21037/cdt-20-845
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33968643
Print-ISSN:
2223-3652
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann)
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