Brain changes in infantile Pompe disease

Dr Hannerieke van den Hout of Erasmus MC joins th…

An episode of the JIMD Podcasts podcast, hosted by Journal of Inherited Metabolic Disease, titled "Brain changes in infantile Pompe disease" was published on November 5, 2024 and runs 21 minutes.

November 5, 2024 ·21m · JIMD Podcasts

Summary

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype. Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning van den Dorpel, et al https://doi.org/10.1002/jimd.12736

Episode Description