A5092678699- Lysosomal Storage Disorders Research
- Cardiomyopathy and Myosin Studies
- Cardiac Structural Anomalies and Repair
- Studies on Chitinases and Chitosanases
- Eosinophilic Disorders and Syndromes
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Pluripotent Stem Cells Research
- Cardiovascular Function and Risk Factors
- Cellular transport and secretion
- Cardiac pacing and defibrillation studies
Universidade Brasil
2025
Universidade de São Paulo
2025
Abstract Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) tissues such as heart, kidneys, nervous system. This study reports a case series patients with FD, highlighting phenotypic diversity disease, which can be confused other cardiological conditions. When properly indicated, evaluation, combined biomarker dosage enzymatic activity, key for accurate diagnosis....
Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy, characterized by ventricular chamber dilatation and systolic dysfunction, in the absence coronary artery disease, arterial hypertension, valvular or congenital diseases. DCM heterogeneous group disorders myocardium caused genetic factors, environmental combination both. affects mainly men aged between 20 50 years, being considered one main causes heart failure (HF) indication for transplantation. Guideline-based HF treatment...
Endomiocardiofibrose (EMF) é uma importante causa de cardiomiopatia restritiva que atinge 10 a 12 milhões pessoas no mundo, sendo maioria dos casos em regiões tropicais e subtropicais países subdesenvolvidos. Caracteriza-se por espessamento fibroso extenso do subendocárdio miocárdio subjacente, levando obliteração apical ventricular fibrótica, distorção da arquitetura ventrículos, tromboembolismo, insuficiência valvar disfunção diastólica restritiva. A etiologia permanece desconhecida várias...