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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

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, multicente...

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Detalles Bibliográficos
Autores principales: Özpelit, Ebru, Çavuşoğlu, Yüksel, Yorgun, Hikmet, Okçün, Emir Özgür Barış, Eker Akıllı, Rabia, Çelik, Ahmet, Ermiş, Necip, Menekşe Gerede Uludağ, Demet, Kahveci, Gökhan, Uslu Çil, Şefika, Erfidan, Erkan, Tüfekçioğlu, Omaç
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Society of Cardiology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098383/
https://www.ncbi.nlm.nih.gov/pubmed/36995061
http://dx.doi.org/10.14744/AnatolJCardiol.2022.2503