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Res."},{"key":"10.1016\/j.ymgme.2019.11.005_bb0425","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1016\/S0041-1345(02)03951-9","article-title":"Outcome of living donor liver transplantation for glycogen storage disease","volume":"35","author":"Liu","year":"2003","journal-title":"Transplant. Proc."},{"key":"10.1016\/j.ymgme.2019.11.005_bb0430","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1074\/jbc.275.2.828","article-title":"Correction of glycogen storage disease type 1a in a mouse model by gene therapy","volume":"275","author":"Zingone","year":"2000","journal-title":"J. Biol. 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J."},{"key":"10.1016\/j.ymgme.2019.11.005_bb0490","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/sj.ejhg.5200367","article-title":"Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling","volume":"7","author":"Ausems","year":"1999","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2019.11.005_bb0495","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1542\/peds.2007-2222","article-title":"Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program","volume":"122","author":"Chien","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2019.11.005_bb0500","doi-asserted-by":"crossref","DOI":"10.1136\/bmjpo-2017-000182","article-title":"Incidence of infantile Pompe disease in the Maroon population of French Guiana","volume":"2","author":"Elenga","year":"2018","journal-title":"BMJ. Paediatr. 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