Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Laboratory of Doctor David A. Fidock, Department of Microbiology & Immunology, Columbia University, New York.
Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may increase the risk of late-onset Pompe disease patients developing white matter lesions in the brain, ... Read more
Amicus Therapeutics received two U.S. patents for ATB200, a unique recombinant (lab-made) human acid alpha-glucosidase (rhGAA) enzyme, and the biologic component of the company’s investigational Pompe disease therapy AT-GAA. One ... Read more
Frequent inspiratory muscle training — a set of breathing exercises to strengthen the respiratory muscles making it easier to breathe — enhanced the breathing capacity of late-onset Pompe disease ... Read more
Lower activity of the two lysosomal enzymes underlying Pompe and Fabry diseases — acid alpha-glucosidase enzyme (GAA) and alpha-galactosidase A (GLA) — is linked to dilated arteries in the ... Read more
Long-term interruption of enzyme replacement therapy (ERT) can lead to negative outcomes for late-onset Pompe disease patients, affecting their lung and exercise capacity as well as quality of life, a Swiss retrospective study ... Read more
Newborn screening for lysosomal storage disorders, including Pompe disease, is much more likely to detect individuals at risk for late-onset disease, according to a four-fear analysis of data from a ... Read more