HIGHLIGHTS
- who: K. Savostyanov from the Moscow, Russia have published the Article: The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology, in the Journal: (JOURNAL)
- what: The FD prevalence among 1009 adult Russian patients of both sexes with HCM was 0.4%.
- how: Most such screening studies were conducted in adult male patients due to false-negative values of the enzymatic diagnosis of FD in females .
- future: More studies in females are required to comprehensively interpret the pathogenicity of these variants . . .
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