TY  - BOOK
ED  - Hwu, Wuh-Liang
ED  - Chien, Yin-Hsiu
ED  - Wang, Raymond
PY  - 2021
DA  - 2021//
TI  - Newborn Screening for Pompe Disease
PB  - MDPI - Multidisciplinary Digital Publishing Institute
CY  - Basel, Switzerland
KW  - Technology: general issues
AB  - Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease
SN  - 9783036505800
UR  - https://directory.doabooks.org/handle/20.500.12854/76581
LA  - English
N1  - English
ID  - 1794558691
ER  -