Infantile-onset Pompe disease with neonatal debut
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DOI: 10.1097/md.0000000000009186
Abstract: Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes… read more here.
Keywords: neonatal debut; disease; onset pompe; disease neonatal ... See more keywords