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Nicolai Preisler Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Pascal Laforêt Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GH Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France

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Karen Lindhardt Madsen Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Edith Husu Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Christoffer Rasmus Vissing Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Gitte Hedermann Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Henrik Galbo Department of Inflammation Research, Rigshospitalet, Copenhagen, Denmark

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Christopher Lindberg Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden

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John Vissing Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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Introduction Pompe disease (Glycogenosis type II; OMIM #232300) is caused by lysosomal acid alpha-glucosidase deficiency (EC# 3.2.1.20), which leads to a metabolic block in intra-lysosomal glycogen breakdown ( 1 ). In the late-onset forms of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0042
Volume/Issue:
Volume 6: Issue 6
Open access
Annalisa Blasetti Department of Paediatrics, University of Chieti, Chieti, Italy

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Valeria Castorani Department of Paediatrics, University of Chieti, Chieti, Italy

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Nella Polidori Department of Paediatrics, University of Chieti, Chieti, Italy

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Ilaria Mascioli Department of Paediatrics, University of Chieti, Chieti, Italy

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Francesco Chiarelli Department of Paediatrics, University of Chieti, Chieti, Italy

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Cosimo Giannini Department of Paediatrics, University of Chieti, Chieti, Italy

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Ruco L & Falaschi P . Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus . World Journal of Diabetes 2014 5 882 – 888 . ( https://doi.org/10.4239/wjd.v5.i6.882 ) 4 Dunger DB & Cheetham TD . Growth hormone

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0370
Volume/Issue:
Volume 12: Issue 4
Open access