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Journal Abstract Search

417 related items for PubMed ID: 17689125

  • 1. 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
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  • 2. 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
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  • 4. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
    Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.
    Pediatr Res; 2003 Dec; 54(6):834-9. PubMed ID: 12930917
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  • 7. 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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  • 8.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.
    ; 1993 Jun. PubMed ID: 21634085
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  • 10. 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; 111(3):309-313. PubMed ID: 24389071
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  • 12. 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 21; 17():33. PubMed ID: 27103379
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  • 13. 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 21; 102(4):423-9. PubMed ID: 9600238
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  • 14. 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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  • 16. 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 28; 113(3):171-6. PubMed ID: 25266922
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  • 19. 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 05; 627():149-156. PubMed ID: 28627441
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