Molnár, Judit Mária; Boros, Beáta; Várdi, Katalin Visy; Grosz, Zoltán; Sebők, Ágnes; Dézsi, Lívia; Almássy, Zsuzsanna; Kerényi, Levente; Jobbágy, Zita; Jávor, László; Bidló, Judit
(2020)
Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within ...