Pain is relevant but appears to be unrelated to damage to small nerve fibers in the skin of late-onset…
Articles by Margarida Maia, PhD
The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages,…
Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other…
A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle,…