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: | , , |
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Formato: | Electrónico Capítulo de libro |
Lenguaje: | inglés |
Publicado: |
Basel, Switzerland
MDPI - Multidisciplinary Digital Publishing Institute
2021
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Materias: | |
Acceso en línea: | DOAB: download the publication DOAB: description of the publication |
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Internet
DOAB: download the publicationDOAB: description of the publication
3rd Floor Main Library
Número de Clasificación: |
A1234.567 |
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Copia 1 | Disponible |