Results for "General Science"

Living with Pompe Disease: How Early Enzymes Change the Odds for Children

A retrospective study of 30 children highlights the stark differences between infantile and late-onset forms of this genetic disorder. While enzyme replacement therapy significantly reduces severe health events and improves heart function, the study confirms that mortality remains high for the most severe cases.

By Erdem Karapınar F, Yazıcı H, Yoldaş Çelik M, Yüksel Yanbolu A, Eraslan C, Alpman A, Aykut A, Canda E, Ülger Tutar Z, Kalkan-Ucar S, Levent E, Yıldırım Sözmen E, Coker M.