Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Glycogen Storage Disease Type I and PHKA2[original query] |
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PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC medical genetics 2016 17 33. Choi Rihwa, Park Hyung-Doo, Kang Ben, Choi So Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Choe Yon |
A new variant in PHKA2 is associated with glycogen storage disease type IXa. Molecular genetics and metabolism reports 2017 1 10 52-55. Rodríguez-Jiménez Carmen, Santos-Simarro Fernando, Campos-Barros Ángel, Camarena Carmen, Lledín Dolores, Vallespín Elena, Del Pozo Ángela, Mena Rocío, Lapunzina Pablo, Rodríguez-Nóvoa Son |
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. JIMD reports 2019 8 48 (1): 15-18. Ago Yasuhiko, Sugie Hideo, Fukuda Tokiko, Otsuka Hiroki, Sasai Hideo, Nakama Mina, Abdelkreem Elsayed, Fukao Toshiyu |
Neurological Characteristics of Pediatric Glycogen Storage Disease. Frontiers in endocrinology 2021 6 12 685272. Muzetti Julio Henrique, do Valle Daniel Almeida, Santos Mara L S Ferreira, Telles Bruno Augusto, Cordeiro Mara |
[Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Sep 39 (9): 988-991. Zhao Ganye, Si Wenzhe, Zhao Xuechao, Liu Li'na, Wang Conghui, Kong Xiangdo |
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