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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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Detalles Bibliográficos
Autores principales:	Iijima, Hiroyuki, Ago, Yasuhiko, Fujiki, Ryoji, Takayanagi, Takaaki, Kubota, Mitsuru
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7808955/ https://www.ncbi.nlm.nih.gov/pubmed/33489759 http://dx.doi.org/10.1016/j.ymgmr.2020.100702

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