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Is the alpha‐galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

Journal of Inherited Metabolic Disease, 2020
The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical ...
G. Effraimidis   +4 more
semanticscholar   +1 more source

Left Ventricular Hypertrophy and Late Gadolinium Enhancement at Cardiac MRI Are Associated with Adverse Cardiac Events in Fabry Disease.

Radiology, 2019
Background Cardiac involvement is the leading cause of mortality in patients with Fabry disease. Identification of imaging findings that predict adverse cardiac events is needed to enable identification of high-risk patients.
Kate Hanneman   +5 more
semanticscholar   +1 more source

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease

Circulation Cardiovascular Imaging, 2019
Background: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes.
A. Camporeale   +15 more
semanticscholar   +1 more source

A tunable Fabry–Pérot quantum Hall interferometer in graphene

Nature Nanotechnology, 2021
Corentin Déprez   +2 more
exaly  

Aharonov–Bohm effect in graphene-based Fabry–Pérot quantum Hall interferometers

Nature Nanotechnology, 2021
Yuval Ronen   +2 more
exaly  

Electrically driven random lasing from a modified Fabry–Pérot laser diode

Nature Photonics, 2022
Antonio Consoli   +2 more
exaly  

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