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Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review
INTRODUCTION: Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the fir...
में बचाया:
| में प्रकाशित: | Medicine (Baltimore) |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Wolters Kluwer Health
2019
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6867740/ https://ncbi.nlm.nih.gov/pubmed/31725618 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000017775 |
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