Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects-Reference-Cited by-同舟云学术

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Published:2021-01-03 Issue:3 Volume:44 Page:521-533
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Berling Édouard¹²,Laforêt Pascal³⁴,Wahbi Karim⁵⁶⁷,Labrune Philippe⁸⁹,Petit François¹⁰,Ronzitti Giuseppe¹²,O'Brien Alan¹¹¹^ORCID

Affiliation:

1. Généthon Evry France

2. Université Paris‐Saclay Univ Evry, INSERM, Généthon, Integrare Research Unit UMR_S951 Evry France

3. APHP, Department of Neurology Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord‐Est‐Ile‐de‐France Garches France

4. INSERM U 1179, Université Versailles Saint Quentin en Yvelines, Paris‐Saclay France

5. APHP, Cochin Hospital, Cardiology Department FILNEMUS, Paris‐Descartes, Sorbonne Paris Cité University Paris France

6. Sorbonne Paris Cité Université Paris Descartes Paris France

7. INSERM Unit 970 Paris Cardiovascular Research Centre (PARCC) Paris France

8. APHP, Université Paris‐Saclay Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique Service de Pédiatrie, 92141 Clamart cedex France

9. INSERM U1195 Université Paris‐Saclay Le Kremlin Bicêtre France

10. Department of Genetics APHP, Université Paris Saclay, Hôpital Antoine Béclère Clamart France

11. Service de Médecine Génique, Département de Médecine Centre Hospitalier de l'Université de Montréal (CHUM) Montréal Quebec Canada

Funder

Agence Nationale de la Recherche

Association Française contre les Myopathies

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12355

Reference79 articles.

1. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

2. Structure of Glycogens and Amylopectins

3. The Subgroups of Type III Glycogenosis

4. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

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