Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis

Objective: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity, which can manifest as left ventricular hypertrophy (LVH). We aimed to assess the prevalence of FD in an unselected cohort of patients with unexplained LVH. Methods and re...

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Autors principals:	Sylwia Szczepara, Klaudia Pacia, Katarzyna Trojanowicz, Klaudia Bielecka, Michał Tworek, Zuzanna Sachajko, Katarzyna Holcman, Piotr Podolec, Monika Komar
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2025-09-01
Col·lecció:	Medical Sciences
Matèries:	Fabry disease left ventricular hypertrophy cardiomyopathy prevalence study genetic screening rare disease
Accés en línia:	https://www.mdpi.com/2076-3271/13/3/162
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