Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Berendine J EbbinkEsther PoelmanFemke K AarsenIris PlugLuc RégalCarsten MuentjesNadine A M E van der BeekMaarten H LequinAns T van der PloegJohanna M P van den HoutPublished in: Developmental medicine and child neurology (2018)
In our long-term survivors treated intravenously with enzyme replacement therapy, we found slowly progressive symmetric white-matter abnormalities. Cognitive development varied from stable and normal to declines towards intellectual disabilities.
Keyphrases
- replacement therapy
- white matter
- end stage renal disease
- newly diagnosed
- multiple sclerosis
- smoking cessation
- chronic kidney disease
- ejection fraction
- peritoneal dialysis
- late onset
- prognostic factors
- young adults
- depressive symptoms
- resting state
- patient reported outcomes
- subarachnoid hemorrhage
- functional connectivity