Synopsis of recent research by authors named "Mercedes Uson"
- Mercedes Uson's recent research primarily focuses on the diagnosis and management of rare genetic disorders, particularly hereditary transthyretin amyloidosis (ATTRv) and Pompe disease, with an emphasis on clinical, genetic, and psychosocial aspects.
- Key findings include the validation of Sudoscan® as a diagnostic tool for early detection of autonomic neuropathy in ATTRv, and a detailed description of clinical and genetic features among patients with Pompe disease in Spain, enhancing understanding of these conditions.
- The research highlights the significance of multidisciplinary approaches in managing hATTR and explores the implications of anti-rhGAA antibodies in the treatment of late-onset Pompe disease, suggesting potential biomarkers and treatment strategies to improve patient outcomes.
