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PDF Availablehttps://doi.org/10.1136/archdischild-2021-rcpch.88
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Cite Journal: Archives of Disease in Childhood |  Publication Date: Aug 1, 2021 |
Affiliation: Cambridge University Hospitals NHS Foundation Trust
BackgroundPompe disease is a rare genetic disorder caused by deficiency of alpha-glucosidase enzyme. The classical infantile form clinically presents in the first two months of life with myopathy and cardiomyopathy...
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