دورية أكاديمية
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review
| العنوان: | A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review |
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| المؤلفون: | Jun Kido, Hiroshi Mitsubuchi, Takehisa Watanabe, Keishin Sugawara, Hideo Sasai, Toshiyuki Fukao, Kimitoshi Nakamura |
| المصدر: | Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021) |
| بيانات النشر: | Nature Publishing Group, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Genetics LCC:Life |
| مصطلحات موضوعية: | Genetics, QH426-470, Life, QH501-531 |
| الوصف: | Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using the GSD gene panel. She presented with hypoglycemia, hepatomegaly, and short stature and died of cirrhosis and recurrent multiple hepatocellular adenoma at the age of 69 years and 11 months. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2054-345X |
| Relation: | https://doaj.org/toc/2054-345X |
| DOI: | 10.1038/s41439-021-00172-8 |
| URL الوصول: | https://doaj.org/article/d64176232cbc4801ae1c3344a570e6f4 |
| رقم الأكسشن: | edsdoj.64176232cbc4801ae1c3344a570e6f4 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2054345X |
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| DOI: | 10.1038/s41439-021-00172-8 |