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...

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Vydáno v:Medicine (Baltimore)
Hlavní autoři: Zhu, Qian, Wen, Xiao-Yu, Zhang, Ming-Yuan, Jin, Qing-Long, Niu, Jun-Qi
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer Health 2019
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On-line přístup: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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