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Article

Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations--different outcome?

Clinical genetics - 1 Jan 2016

Politei J, Schenone A B, Cabrera G, Heguilen R, Szlago M

Abstract excerpt

We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (ERT). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild...

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Identifiers

PMID: 25817890
DOI: 10.1111/cge.12590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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