Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ, Poelman E, Aarsen FK, Plug I, Régal L, Muentjes C, van der Beek NAME, Lequin MH, van der Ploeg AT, van den Hout JMP
Developmental medicine and child neurology, 2018 06
Abstract
To examine the long-term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy.