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Titel:

[Neuro-otological manifestations in Fabry disease-a retrospective single center study].

Dokumenttyp:
English Abstract; Journal Article
Autor(en):
Storck, Katharina; Stenzl, Anna; Regenbogen, Claudia; Hofauer, Benedikt; Knopf, Andreas
Abstract:
BACKGROUND: Fabry disease (FD) is one of the X‑linked lysosomal storage diseases that can affect any organ. They have a specific lysosomal dysfunction in common, which results in substrate accumulation in lysosomes instead of metabolite degradation. Due to the deficiency/absence of α‑galactosidase, globotriaosylceramides (Gb3) are deposited in lysosomes of the organs. In addition to acroparesthesia, angiokeratomas, autonomic dysfunction, vortex keratopathies, ischemic cerebral or cardiac complic...     »
Zeitschriftentitel:
HNO
Jahr:
2024
Band / Volume:
72
Heft / Issue:
1
Seitenangaben Beitrag:
16-24
Volltext / DOI:
doi:10.1007/s00106-023-01360-4
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37747492
Print-ISSN:
0017-6192
TUM Einrichtung:
Professur für Nephrologie (Prof. Heemann)
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