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Journal Abstract Search

203 related items for PubMed ID: 29360628

  • 1. 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 28; 31(3):331-338. PubMed ID: 29360628
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  • 2. 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 28; 63(6):103921. PubMed ID: 32244026
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  • 3. Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.
    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 28; 133(3):269-276. PubMed ID: 34083142
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  • 6. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
    Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.
    Hum Mol Genet; 1998 Jan 28; 7(1):149-54. PubMed ID: 9384616
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  • 7. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
    Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.
    Mol Genet Metab; 2014 Mar 28; 111(3):309-313. PubMed ID: 24389071
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  • 9. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
    Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.
    Eur J Pediatr; 2014 May 28; 173(5):647-53. PubMed ID: 24326380
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  • 10. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
    Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA.
    J Pediatr Endocrinol Metab; 2020 Sep 25; 33(9):1117-1123. PubMed ID: 32697758
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  • 11. 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 Sep 25; 104(1-2):137-43. PubMed ID: 21646031
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  • 13. 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 29; 20(1):56. PubMed ID: 30925902
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  • 17. [Splicing abnormalities caused by a novel mutation in the PHKA2 gene in children with glycogen storage disease type IX].
    Zhang ZH, Zheng BX, Zhuo YJ, Jin Y, Liu ZF, Zheng YC.
    Zhonghua Gan Zang Bing Za Zhi; 2023 Apr 20; 31(4):428-432. PubMed ID: 37248983
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  • 19. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R).
    Burwinkel B, Tanner MS, Kilimann MW.
    J Med Genet; 2000 May 20; 37(5):376-7. PubMed ID: 10905889
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