Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.
van den Dorpel JJA, Faraguna MC, Verdijk RM, van der Beek NAME, Pijnappel WWMP, van der Ploeg AT, van den Hout JMP
Journal of neurology, 2026 Jul 31
Abstract
Classic infantile Pompe disease is the most severe phenotype within the clinical spectrum of Pompe disease and is characterized by central nervous system (CNS) involvement.