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pro vyhledávání: '"GYG-1"'
Autor:
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100597- (2020)
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe
Externí odkaz:
https://doaj.org/article/cdb7f7354b4d4f6f9c5aa6d68a3faea0
Autor:
Robert-Yves Carlier, Françoise Chapon, Guillaume Nicolas, Valérie Biancalana, Pascal Laforêt, Maxime Fournier, Edoardo Malfatti, Claire Lefeuvre, Stéphane Schaeffer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100597-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Elsevier, 2020, 24, ⟨10.1016/j.ymgmr.2020.100597⟩
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Elsevier, 2020, 24, ⟨10.1016/j.ymgmr.2020.100597⟩
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f420a031e15d4a12d27125b6e88090
http://www.sciencedirect.com/science/article/pii/S2214426920300434
http://www.sciencedirect.com/science/article/pii/S2214426920300434
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