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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HerausgeberIn: | |
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Year of Publication: | 2021 |
Language: | English |
Physical Description: | 1 electronic resource (146 p.) |
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