Citations for
1GSD6, GSD9C, PHKG2, PYGL
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 104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17. 2011
2PHKB, GSD9B, PHKG2, GSD9C, PHKA2, GSD9A
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 92(1-2):88-99. Epub 2007 Aug 3. 2007
3GSD9C, PHKG2
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 54(6):834-9. Epub 2003 Aug 20. 2003
4GSD6C, GSD9C, PHKG2
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 54(6):834-9. Epub 2003 Aug 20. 2003
5GSD6C, GSD9C, PHKG2
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 7(1):149-54. 1998
6GSD6C, GSD9C, PHKG2
Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, van den Berg IE.
Biochem Biophys Res Commun 236(3):544-8. 1997
7GSD6C, GSD9C, PHKG2
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, et al.
Nat Genet 14 : 337-340. 1996