142 related articles for article (PubMed ID: 36082571)
1. [Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene].
Zhao G; Si W; Zhao X; Liu L; Wang C; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):988-991. PubMed ID: 36082571
[TBL] [Abstract][Full Text] [Related]
2. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
Fu J; Wang T; Xiao X
BMC Med Genet; 2019 Mar; 20(1):56. PubMed ID: 30925902
[TBL] [Abstract][Full Text] [Related]
3. A novel
Zhu H; Zhang T; Yuan H; Chen Y; Ding J; Ding H; Shi X; Gu D; Ma Y
Front Endocrinol (Lausanne); 2023; 14():1332450. PubMed ID: 38192425
[TBL] [Abstract][Full Text] [Related]
4. [Splicing abnormalities caused by a novel mutation in the
Zhang ZH; Zheng BX; Zhuo YJ; Jin Y; Liu ZF; Zheng YC
Zhonghua Gan Zang Bing Za Zhi; 2023 Apr; 31(4):428-432. PubMed ID: 37248983
[No Abstract] [Full Text] [Related]
5. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
Benner A; Alhaidan Y; Lines MA; Brusgaard K; De Leon DD; Sparkes R; Frederiksen AL; Christesen HT
Am J Med Genet A; 2021 Oct; 185(10):2959-2975. PubMed ID: 34117828
[TBL] [Abstract][Full Text] [Related]
6. A novel frameshift PHKA2 mutation in a family with glycogen storage disease type IXa: A first report in Vietnam and review of literature.
Nguyen NL; Thi Bich Ngoc C; Dung Vu C; Van Tung N; Hoang Nguyen H
Clin Chim Acta; 2020 Sep; 508():9-15. PubMed ID: 32387637
[TBL] [Abstract][Full Text] [Related]
7. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
Liang Y; Du C; Wei H; Zhang C; Zhang M; Hu M; Fang F; Luo X
Mol Genet Genomic Med; 2020 Oct; 8(10):e1444. PubMed ID: 32772503
[TBL] [Abstract][Full Text] [Related]
8. A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.
Sato T; Ichihashi Y; Sugie H; Ishii T; Hasegawa T
Congenit Anom (Kyoto); 2024 Mar; 64(2):63-65. PubMed ID: 38361096
[No Abstract] [Full Text] [Related]
9. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.
Zhu Q; Wen XY; Zhang MY; Jin QL; Niu JQ
Medicine (Baltimore); 2019 Nov; 98(46):e17775. PubMed ID: 31725618
[TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa.
Zhang J; Yuan Y; Ma M; Liu Y; Zhang W; Yao F; Qiu Z
Gene; 2017 Sep; 627():149-156. PubMed ID: 28627441
[TBL] [Abstract][Full Text] [Related]
11. Neurological Involvement in Glycogen Storage Disease Type IXa due to
Smith C; ; Dicaire MJ; Brais B; La Piana R
Can J Neurol Sci; 2020 May; 47(3):400-403. PubMed ID: 31987065
[TBL] [Abstract][Full Text] [Related]
12. Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
Kim TH; Kim KY; Kim MJ; Seong MW; Park SS; Moon JS; Ko JS
Eur J Med Genet; 2020 Jun; 63(6):103921. PubMed ID: 32244026
[TBL] [Abstract][Full Text] [Related]
13. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
Choi R; Park HD; Kang B; Choi SY; Ki CS; Lee SY; Kim JW; Song J; Choe YH
BMC Med Genet; 2016 Apr; 17():33. PubMed ID: 27103379
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis.
Beyzaei Z; Ezgu F; Imanieh MH; Geramizadeh B
J Pediatr Endocrinol Metab; 2022 Mar; 35(3):417-420. PubMed ID: 34727590
[TBL] [Abstract][Full Text] [Related]
15. Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease.
Lin WD; Tsai FJ; Wang CH
Pediatr Neonatol; 2023 Jul; 64(4):465-467. PubMed ID: 37280121
[No Abstract] [Full Text] [Related]
16. A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.
Mori T; Ishikawa A; Shigetomi H; Fukuda T; Sugie H
Pediatr Int; 2022 Jan; 64(1):e14839. PubMed ID: 34837663
[No Abstract] [Full Text] [Related]
17. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J; Cui H; Lee NC; Hwu WL; Chien YH; Craigen WJ; Wong LJ; Zhang VW
Genet Med; 2013 Feb; 15(2):106-14. PubMed ID: 22899091
[TBL] [Abstract][Full Text] [Related]
18. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.
Johnson AO; Goldstein JL; Bali D
J Pediatr Gastroenterol Nutr; 2012 Jul; 55(1):90-2. PubMed ID: 21857251
[No Abstract] [Full Text] [Related]
19. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation.
Cho SY; Lam CW; Tong SF; Siu WK
Clin Chim Acta; 2013 Nov; 426():75-8. PubMed ID: 24055370
[TBL] [Abstract][Full Text] [Related]
20. Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ; Dalton A; Ramaswami U; Niinikoski H; Mention K; Kenny P; Kolho KL; Raiman J; Walter J; Treacy E; Tanner S; Sharrard M
Mol Genet Metab; 2007; 92(1-2):88-99. PubMed ID: 17689125
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]