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Cell reports (Cambridge), ISSN 2211-1247, 2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
BMC medical genetics, ISSN 1471-2350, 2016, Volume 17, Issue 1, p. 3
Journal Article
Molecular genetics and metabolism reports, ISSN 2214-4269, 2018, Volume 15, pp. 50 - 54
Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid... 
Pompe disease | Glycogen storage disease type II | Enzyme replacement therapy | GAA | GENE | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | MUTATIONS | LESSONS | IDENTIFICATION | CHILDREN
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Human mutation, ISSN 1059-7794, 2017, Volume 38, Issue 12, pp. 1649 - 1659
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2017, Volume 53, Issue 6, pp. 585 - 591
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Clinical genetics, ISSN 0009-9163, 2019, Volume 95, Issue 2, pp. 310 - 319
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