These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
164 related articles for article (PubMed ID: 21131218)
1. Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China. Lau CK; Hui J; Fong FN; To KF; Fok TF; Tang NL; Tsui SK Mol Genet Metab; 2011 Feb; 102(2):222-5. PubMed ID: 21131218 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature. Li C; Huang L; Tian L; Chen J; Li S; Yang Z J Pediatr Endocrinol Metab; 2018 Mar; 31(3):331-338. PubMed ID: 29360628 [TBL] [Abstract][Full Text] [Related]
5. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031 [TBL] [Abstract][Full Text] [Related]
6. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Burwinkel B; Amat L; Gray RG; Matsuo N; Muroya K; Narisawa K; Sokol RJ; Vilaseca MA; Kilimann MW Hum Genet; 1998 Apr; 102(4):423-9. PubMed ID: 9600238 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Kishnani PS; Goldstein J; Austin SL; Arn P; Bachrach B; Bali DS; Chung WK; El-Gharbawy A; Brown LM; Kahler S; Pendyal S; Ross KM; Tsilianidis L; Weinstein DA; Watson MS; Genet Med; 2019 Apr; 21(4):772-789. PubMed ID: 30659246 [TBL] [Abstract][Full Text] [Related]
10. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hendrickx J; Coucke P; Dams E; Lee P; Odièvre M; Corbeel L; Fernandes JF; Willems PJ Hum Mol Genet; 1995 Jan; 4(1):77-83. PubMed ID: 7711737 [TBL] [Abstract][Full Text] [Related]
11. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Maichele AJ; Burwinkel B; Maire I; Søvik O; Kilimann MW Nat Genet; 1996 Nov; 14(3):337-40. PubMed ID: 8896567 [TBL] [Abstract][Full Text] [Related]
12. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hendrickx J; Dams E; Coucke P; Lee P; Fernandes J; Willems PJ Hum Mol Genet; 1996 May; 5(5):649-52. PubMed ID: 8733133 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2 Gibson RA; Lim JA; Choi SJ; Flores L; Clinton L; Bali D; Young S; Asokan A; Sun B; Kishnani PS Mol Genet Metab; 2021 Jul; 133(3):269-276. PubMed ID: 34083142 [TBL] [Abstract][Full Text] [Related]
15. Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. Fernandes SA; Cooper GE; Gibson RA; Kishnani PS Mol Genet Metab; 2020 Nov; 131(3):299-305. PubMed ID: 33317799 [TBL] [Abstract][Full Text] [Related]
16. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Burwinkel B; Moses SW; Kilimann MW Hum Genet; 1997 Dec; 101(2):170-4. PubMed ID: 9402963 [TBL] [Abstract][Full Text] [Related]
17. [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]
18. 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase. Carrière C; Jonic S; Mornon JP; Callebaut I Biochim Biophys Acta; 2008 Nov; 1782(11):664-70. PubMed ID: 18950708 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Burwinkel B; Hu B; Schroers A; Clemens PR; Moses SW; Shin YS; Pongratz D; Vorgerd M; Kilimann MW Eur J Hum Genet; 2003 Jul; 11(7):516-26. PubMed ID: 12825073 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]