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The Glycogen Storage Diseases and Related Disorders

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Inborn Metabolic Diseases

Zusammenfassung

Disorders of glycogen metabolism primarily involve liver and/or muscle although there are rare neurological phenotypes associated with some enzyme deficiencies. Most are referred to by a roman numeral or by the specific enzyme that is deficient. The use of eponyms is now largely historical. The hepatic glycogenosis generally cause hepatomegaly (apart from GSD Oa) and fasting hypoglycaemia whereas the muscle disorders are associated with skeletal and/or cardiomyopathy. The clinical phenotypes are extremely heterogeneous.

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Authors and Affiliations

  1. Manchester Centre for Genomic Medicine,Willink Biochemical Genetics Unit, University of Manchester, Oxford Road, M13 9WL, Manchester, UK

    John Walter

  2. Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpital Antoine Béclère, Service de Pédiatrie, 157 rue de la porte de Trivaux, 92141, Clamart, France

    Philippe A. Labrune

  3. Institut de Myologie, Hôpital Pitié Salpêtrière, 47-83 Boulevard de l’Hôpital, 75651, Paris Cedex 13, France

    Pascal Laforet

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  1. John Walter
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  2. Philippe A. Labrune
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Correspondence to John Walter , Philippe A. Labrune or Pascal Laforet .

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Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Walter, J., Labrune, P.A., Laforet, P. (2016). The Glycogen Storage Diseases and Related Disorders. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_5

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