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Article

Presymptomatic diagnosis of Fabry's disease: a case report.

Journal of medical case reports - 29 Nov 2016

Hasselbalch Rasmus Bo, Madsen Per Lav, Bundgaard Henning, Theilade Juliane

Abstract excerpt

BACKGROUND: Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in patients presenting with cardiac hypertrophy. In boys, onset has been reported in early...

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Identifiers

PMID: 27899143
DOI: 10.1186/s13256-016-1124-z
PMCID: PMC5129214

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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