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Article

Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

Endocrine - 1 Mar 2022

Bothou Christina, Beuschlein Felix, Nowak Albina

Abstract excerpt

CONTEXT: Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity. OBJECTIVE: To investigate the function of the endocrine system in patients with FD....

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Identifiers

PMID: 34751898
DOI: 10.1007/s12020-021-02918-4
PMCID: PMC8888367

Provenance

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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