1 | GSD6, GSD9C, PHKG2, PYGL
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| Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
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| Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, Bernard O, Jacquemin E, Baussan C.
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| Mol Genet Metab 104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. 2011
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2 | PHKB, GSD9B, PHKG2, GSD9C, PHKA2, GSD9A
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| Glycogen storage disease type IX: High variability in clinical phenotype.
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| Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
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| Mol Genet Metab 92(1-2):88-99. Epub 2007 Aug 3. 2007
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3 | GSD9C, PHKG2
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| Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
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| Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.
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| Pediatr Res 54(6):834-9. Epub 2003 Aug 20. 2003
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4 | GSD6C, GSD9C, PHKG2
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| Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.
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| Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW.
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| Pediatr Res 54(6):834-9. Epub 2003 Aug 20.
2003
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5 | GSD6C, GSD9C, PHKG2
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| Liver glycogenosis due to phosphorylase kinase deficiency : PHKG2 gene structure and mutations associated with cirrhosis.
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| Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW.
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| Hum Mol Genet 7(1):149-54. 1998
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6 | GSD6C, GSD9C, PHKG2
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| Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
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| van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE.
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| Biochem Biophys Res Commun 236(3):544-8. 1997
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7 | GSD6C, GSD9C, PHKG2
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| Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
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| Maichele AJ, et al.
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| Nat Genet 14 : 337-340. 1996
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