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JIMD Podcasts

JIMD Podcasts

Science

Brain changes in infantile Pompe disease

Brain changes in infantile Pompe disease

2024-11-05
Download Right click and do "save link as"
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
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