Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

The Pompe Registry is the largest worldwide database that collects medical information on
people with Pompe disease. This plain language summary discusses a recent publication analysing data from the Pompe Registry looking at gene changes that can result in Pompe disease.

Read the full article here.

The original article on which this summary is based is called ‘GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry’ and was originally published in the journal Human Mutation. The original article can be read here.

• acid alpha glucosidase
• DNA sequence
• GAA variant
• Pompe disease
• Pompe Registry

Share