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Xu, C. Glycogen Storage Disease Type IX. Encyclopedia. Available online: https://encyclopedia.pub/entry/4028 (accessed on 28 September 2026).
Xu C. Glycogen Storage Disease Type IX. Encyclopedia. Available at: https://encyclopedia.pub/entry/4028. Accessed September 28, 2026.
Xu, Camila. "Glycogen Storage Disease Type IX" Encyclopedia, https://encyclopedia.pub/entry/4028 (accessed September 28, 2026).
Xu, C. (2020, December 23). Glycogen Storage Disease Type IX. In Encyclopedia. https://encyclopedia.pub/entry/4028
Xu, Camila. "Glycogen Storage Disease Type IX." Encyclopedia. Web. 23 December, 2020.
Glycogen Storage Disease Type IX
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Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.

genetic conditions

References

  1. Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, KolhoKL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab. 2007Sep-Oct;92(1-2):88-99.
  2. Brushia RJ, Walsh DA. Phosphorylase kinase: the complexity of its regulationis reflected in the complexity of its structure. Front Biosci. 1999 Sep15;4:D618-41. Review.
  3. Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ,Vilaseca MA, Kilimann MW. Variability of biochemical and clinical phenotype inX-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2gene. Hum Genet. 1998 Apr;102(4):423-9.
  4. Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, StrachanJA, Kilimann MW. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit(PHKB). Hum Mol Genet. 1997 Jul;6(7):1109-15.
  5. Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Liver glycogenosis due tophosphorylase kinase deficiency: PHKG2 gene structure and mutations associatedwith cirrhosis. Hum Mol Genet. 1998 Jan;7(1):149-54.
  6. Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.Phosphorylase Kinase Deficiency. 2011 May 31 [updated 2018 Nov 1]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK55061/
  7. Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ. Myopathy andphosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am J Med Genet A. 2005 Feb 15;133A(1):82-4.
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Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Update Date: 23 Dec 2020
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