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272 related items for PubMed ID: 33317799

  • 1. 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
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  • 4. 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 Nov; 92(1-2):88-99. PubMed ID: 17689125
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  • 5. 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
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  • 6. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
    Arends CJ, Wilson LH, Estrella A, Kwon OS, Weinstein DA, Lee YM.
    Int J Mol Sci; 2022 Sep 01; 23(17):. PubMed ID: 36077341
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  • 10. 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 01; 14(3):337-40. PubMed ID: 8896567
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  • 11. 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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  • 13. 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 Mar 29; 104(1-2):137-43. PubMed ID: 21646031
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  • 14. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
    Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S.
    Mol Genet Metab; 2014 Nov 29; 113(3):171-6. PubMed ID: 25266922
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  • 15. 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 29; 111(3):309-313. PubMed ID: 24389071
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  • 16. 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 29; 102(2):222-5. PubMed ID: 21131218
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  • 17. Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report.
    Zamanfar D, Hashemi-Soteh SM, Ghazaiean M, Keyhanian E.
    J Med Case Rep; 2024 Jan 12; 18(1):14. PubMed ID: 38212860
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  • 20. Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).
    Schippers HM, Smit GP, Rake JP, Visser G.
    J Inherit Metab Dis; 2003 Jan 12; 26(1):43-7. PubMed ID: 12872839
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