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...
Furkejuvvon:
| Váldodahkkit: | , , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
Elsevier
2021-03-01
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| Ráidu: | Molecular Genetics and Metabolism Reports |
| Fáttát: | |
| Liŋkkat: | http://www.sciencedirect.com/science/article/pii/S2214426920301488 |
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