In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.
Giuseppe PontilloMario TranfaAlessandra ScaravilliSerena MontiIvana CapuanoEleonora RiccioManuela RizzoArturo BrunettiGiuseppe PalmaAntonio PisaniSirio CocozzaPublished in: Neuroradiology (2024)
We demonstrated the feasibility and clinical relevance of non-invasively assessing cerebral Gb3 accumulation in FD using MRI. R1 mapping might be used as an in-vivo quantitative neuroimaging biomarker in FD patients.
Keyphrases
- end stage renal disease
- high resolution
- ejection fraction
- contrast enhanced
- magnetic resonance imaging
- newly diagnosed
- chronic kidney disease
- magnetic resonance
- prognostic factors
- heart failure
- subarachnoid hemorrhage
- computed tomography
- white matter
- left ventricular
- brain injury
- patient reported outcomes
- hypertrophic cardiomyopathy
- replacement therapy
- blood brain barrier