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- Title
Commentary on "Novel Insights from Clinical Practice p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease".
- Authors
Serra, Walter
- Abstract
In this original paper, "Novel Insights from Clinical Practice p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease", Carvalho Silva et al. [[1]] report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. 2D speckle-tracking echocardiography shows a reduced strain and systolic longitudinal strain rate (SR) and reduced early diastolic SR in patients with Fabry disease (Fig.
- Subjects
ANGIOKERATOMA corporis diffusum; PHENOTYPES; LEFT ventricular hypertrophy; SYMPTOMS; EARLY diagnosis; SARCOIDOSIS
- Publication
Cardiology, 2019, Vol 144, Issue 3/4, p131
- ISSN
0008-6312
- Publication type
Article
- DOI
10.1159/000502834