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The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.

Anatolian journal of cardiology - 1 Apr 2023

Özpelit Ebru, Çavuşoğlu Yüksel, Yorgun Hikmet, Ökçün Emir Özgür Barış, Eker Akıllı Rabia, Çelik Ahmet, Ermiş Necip, Gerede Uludağ Demet Menekşe, Kahveci Gokhan, Uslu Çil Şefika, Erfidan Erkan, Tufekcioglu Omaç

Abstract excerpt

BACKGROUND: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis. METHODS: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical...

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Identifiers

PMID: 36995061
DOI: 10.14744/AnatolJCardiol.2022.2503
PMCID: PMC10098383

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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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