Article

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

2022-06-10

Abstract excerpt

<title>Abstract</title> <p>Background Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and hypertrophic cardiomyopathy. Treatment with enzyme replacement therapy (ERT) has signifi...

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Literature Corpus work: 0318b343-2000-5205-a000-1accde3215dd
DOI: 10.21203/rs.3.rs-1721748/v1

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