An MRI-based study found that progression of white matter involvement in the brain among patients with infantile-onset Pompe disease…
Articles by Steve Bryson, PhD
A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the…
Stem cell-mediated gene therapy normalized glycogen build-up in muscle, heart, and brain tissue of a Pompe disease mouse model,…
In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs —…
Most children with Pompe disease in a small study developed antibodies against the enzyme replacement therapy Myozyme (alglucosidase alfa)…
Adults with late-onset Pompe disease in the U.K reported a long and distressing diagnostic process, with most patients calling…
Based on a literature and database analysis, the predicted genetic prevalence of disease-related variants in the GAA gene — the…
A large-scale analysis of the proteins and lipids found in the blood of people with…
Whole-body MRI found that a muscle in the shin is affected early on in children…
People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat…