| 1 | 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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| 2 | GSD5B, PHKA1, PHKG1, PHKB
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| Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
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| Burwinkel, B.; Hu, B.; Schroers, A.; Clemens, P. R.; Moses, S. W.; Shin, Y. S.; Pongratz, D.; Vorgerd, M.; Kilimann, M. W.
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| Eur. J. Hum. Gen. 11(7):516-526. 2003
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| 3 | PHKB, PHKA1
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| Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
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| Pallen MJ.
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| Protein Sci 12(8):1804-7. 2003
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| 4 | GSD8B, PHKB
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| Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).
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| Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW.
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| Hum Mol Genet 6(7):1109-15. 1997
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| 5 | GSD8B, PHKB
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| Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
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| van den Berg IE, van Beurden EA, de Klerk JB, van Diggelen OP, Malingre HE, Boer MM, Berger R.
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| Am J Hum Genet 61(3):539-46. 1997
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| 6 | GSD8B, PHKB
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| Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).
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| Burwinkel B, Moses SW, Kilimann MW.
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| Hum Genet 101(2):170-4. 1997
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| 7 | GSD8B, PHKB
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| Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.
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| Sšvik O, et al.
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| Eur J Pediatr 139 : 210. 1982
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| 8 | GSD8B, PHKB
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| Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
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| Bashan N, et al.
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| Pediatr Res 15 : 299-303. 1981
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