Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a

Background: Glycogen storage disease type 0a (GSD 0a), caused by GYS2 mutations, has a broad phenotypic spectrum, mostly associated with hypoglycemia. This disease has been characterized by the inability to store glycogen in the liver, leading to no hepatomegaly. Although the prevention of hypoglyce...

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Bibliographic Details
Main Authors: Hiroyuki Iijima, Yasuhiko Ago, Ryoji Fujiki, Takaaki Takayanagi, Mitsuru Kubota
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Diabetes mellitus
Fatty liver
Glycogen storage disease type 0a
Glycogenosis, glycogen synthase 2
Haploinsufficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920301488

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http://www.sciencedirect.com/science/article/pii/S2214426920301488

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