Phka2-KO 基因敲除小鼠

1. Fu, Junling, Wang, Tong, Xiao, Xinhua. 2019. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review. In BMC medical genetics, 20, 56. doi:10.1186/s12881-019-0789-8. https://pubmed.ncbi.nlm.nih.gov/30925902/

2. Zhu, Qian, Wen, Xiao-Yu, Zhang, Ming-Yuan, Jin, Qing-Long, Niu, Jun-Qi. . Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review. In Medicine, 98, e17775. doi:10.1097/MD.0000000000017775. https://pubmed.ncbi.nlm.nih.gov/31725618/

3. Nguyen, Ngoc-Lan, Thi Bich Ngoc, Can, Dung Vu, Chi, Van Tung, Nguyen, Hoang Nguyen, Huy. 2020. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature. In Clinica chimica acta; international journal of clinical chemistry, 508, 9-15. doi:10.1016/j.cca.2020.05.010. https://pubmed.ncbi.nlm.nih.gov/32387637/

4. Zhu, Hongdan, Zhang, Tao, Yuan, Hua, Gu, Dalei, Ma, Yingying. 2023. A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa. In Frontiers in endocrinology, 14, 1332450. doi:10.3389/fendo.2023.1332450. https://pubmed.ncbi.nlm.nih.gov/38192425/

5. Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A, Frederiksen, Anja L, Christesen, Henrik T. 2021. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. In American journal of medical genetics. Part A, 185, 2959-2975. doi:10.1002/ajmg.a.62383. https://pubmed.ncbi.nlm.nih.gov/34117828/

6. Choi, Rihwa, Park, Hyung-Doo, Kang, Ben, Song, Junghan, Choe, Yon Ho. 2016. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. In BMC medical genetics, 17, 33. doi:10.1186/s12881-016-0295-1. https://pubmed.ncbi.nlm.nih.gov/27103379/

7. Mori, Toshihiko, Ishikawa, Aki, Shigetomi, Hiroko, Fukuda, Tokiko, Sugie, Hideo. 2021. A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa. In Pediatrics international : official journal of the Japan Pediatric Society, 64, e14839. doi:10.1111/ped.14839. https://pubmed.ncbi.nlm.nih.gov/34837663/

8. Beyzaei, Zahra, Ezgu, Fatih, Imanieh, Mohammad Hadi, Geramizadeh, Bita. 2021. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis. In Journal of pediatric endocrinology & metabolism : JPEM, 35, 417-420. doi:10.1515/jpem-2021-0385. https://pubmed.ncbi.nlm.nih.gov/34727590/

9. Ago, Yasuhiko, Sugie, Hideo, Fukuda, Tokiko, Abdelkreem, Elsayed, Fukao, Toshiyuki. 2019. A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. In JIMD reports, 48, 15-18. doi:10.1002/jmd2.12041. https://pubmed.ncbi.nlm.nih.gov/31392108/