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Article

[Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].

Medizinische Klinik (Munich, Germany : 1983) - 1 Sept 2010

Weidemann Frank, Niemann Markus, Sommer Claudia, Beer Meinrad, Breunig Frank, Wanner Christoph

Abstract excerpt

Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical organ involvement and, thus, have to be treated respectively. This synopsis wants to systematically...

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Identifiers

PMID: 20878300
DOI: 10.1007/s00063-010-1102-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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