Newborn Screening for Pompe Disease

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 re...

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Otros Autores: Hwu, Wuh-Liang (Editor), Chien, Yin-Hsiu (Editor), Wang, Raymond (Editor)
Formato: Electrónico Capítulo de libro
Lenguaje:inglés
Publicado: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
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