Brain changes in infantile Pompe disease
Nov 05, 2024•22 min
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Episode description
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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