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- Title
A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review.
- Authors
Kido, Jun; Mitsubuchi, Hiroshi; Watanabe, Takehisa; Sugawara, Keishin; Sasai, Hideo; Fukao, Toshiyuki; Nakamura, Kimitoshi
- Abstract
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.
- Subjects
GLYCOGEN storage disease; HEPATOCELLULAR carcinoma; WOMEN patients; LITERATURE reviews; DIAGNOSIS; SHORT stature
- Publication
Human Genome Variation, 2021, Vol 8, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-021-00172-8