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Article

Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

Journal of human genetics - 1 Sept 2016

Seo Jiwon, Kim Minji, Hong Geu-Ru, Kim Dae-Seong, Son Jang-Won, Cho In Jeong, Shim Chi Young, Chang Hyuk-Jae, Ha Jong-Won, Chung Namsik

Abstract excerpt

This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients...

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Source

Identifiers

PMID: 27225851
DOI: 10.1038/jhg.2016.52

Genes

GAL
GLA

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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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