Urinary levels of a proposed Pompe disease biomarker known as Glc4 are higher in patients with either infantile-onset…
Articles by Marisa Wexler, MS
The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the…
When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with…
People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case…
Muscle strength and function measurements in people with late-onset Pompe disease (LOPD) correlate with whole-body magnetic resonance imaging (WBMRI) results,…
A molecular “tag” to improve distribution of the acid-alpha glucosidase (GAA) protein within cells enhanced the efficacy of gene…
The use of enzyme replacement therapy is safe and effective in Japanese people living with Pompe disease, a new…
A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such…