Publications by authors named "Joni de Kriek"
J Inherit Metab Dis
May 2022
Article Synopsis
- The study examined the brain structure, blood vessels, and cognitive abilities of 19 late-onset Pompe disease patients, comparing them to classic infantile cases where severe cognitive issues and brain abnormalities are common.
- Using various brain imaging techniques and cognitive assessments, most late-onset patients displayed normal cognitive functioning and only mild microvascular lesions were found, which are considered normal for their age.
- The results indicate significant differences between late-onset and classic infantile Pompe disease patients, with the former showing no major brain abnormalities or cognitive impairments.
