Epidemiologists are increasingly conducting studies on a global scale to understand the true prevalence of Pompe disease.
We shine a spotlight on a lesser-known implication of inborn errors of metabolism: dental effects that require treatment by a dentist.
Putting 2 very different epidemiological studies side by side shows the difference between the tools at the researchers’ disposal.
Researchers reviewed the effectiveness of the 6-minute walk test as a measurement of motor deterioration in Pompe disease.
Studies demonstrate that the early treatment of late-onset Pompe disease with enzyme replacement therapy yields considerable benefits.
The acceleration of telemedicine during the pandemic has allowed us to gain vast insights into what works and what does not.
Researchers are currently investigating the optimal way to deliver gene therapy to Pompe disease patients that can lead to lasting change.
We explore current evidence of the early commencement of enzyme replacement therapy on patients with infantile-onset Pompe disease.
We examine whether the correction of oxidative stress can improve the efficacy of enzyme replacement therapy in Pompe disease.
We explore the various psychosocial needs of children with Pompe disease and discuss how we can better address those needs.