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Reporte de caso: familia que padece enfermedad de Fabry. Análisis de su expresión clínica
(Ediciones Universidad Simón BolívarFacultad de Ciencias Básicas y Biomédicas, 2019)
La Enfermedad de Fabry forma parte de las enfermedades ligadas a errores innatos del metabolismo, del subgrupo de enfermedades lisosomales; y se caracteriza por la deficiencia de la actividad de la enzima lisosomal llamada ...
When Frequent (Pandemic) Occurs in a Non-Frequent Disease: COVID-19 and Fabry Disease: Report of Two Cases
(J-STAGE, 2021)
Fabry disease (FD), like COVID-19, can affect multiple organs, including the lungs. Patients with FD are expected to develop severe COVID-19, due to involvement of not only the lungs but also the kidneys and the presence ...
Fabry disease - importance of screening in cornea verticillata: case report
(Conselho Brasileiro de Oftalmologia, 2011-12-01)
Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea ...
Apical left ventricular hypertrophy and mid-ventricular obstruction in Fabry disease
(Wiley Blackwell Publishing, Inc, 2015-05)
We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ...
Classic Fabry disease in asymptomatic pediatric patients: Bioethical aspects of enzyme therapyEnfermedad de Fabry clásica en pacientes pediátricos asintomáticos: Aspectos bioéticos de la terapia enzimáticaDoença de Fabry clássica em pacientes pediátricos assintomáticos: Aspectos bioéticos da terapia enzimática
(Universidad Militar Nueva Granada, 2021)