Glycogen Storage Disease Type III

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Xu, C. Glycogen Storage Disease Type III. Encyclopedia. Available online: https://encyclopedia.pub/entry/4031 (accessed on 15 September 2026).

Xu C. Glycogen Storage Disease Type III. Encyclopedia. Available at: https://encyclopedia.pub/entry/4031. Accessed September 15, 2026.

Xu, Camila. "Glycogen Storage Disease Type III" Encyclopedia, https://encyclopedia.pub/entry/4031 (accessed September 15, 2026).

Xu, C. (2020, December 23). Glycogen Storage Disease Type III. In Encyclopedia. https://encyclopedia.pub/entry/4031

Xu, Camila. "Glycogen Storage Disease Type III." Encyclopedia. Web. 23 December, 2020.

Glycogen Storage Disease Type III

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-iii

Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

genetic conditions

References

Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR. Distinct mutations in theglycogen debranching enzyme found in glycogen storage disease type III lead toimpairment in diverse cellular functions. Hum Mol Genet. 2009 Jun1;18(11):2045-52. doi: 10.1093/hmg/ddp128.
Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar9 [updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK26372/
Frisbie JH, O'Connell DJ, Tow DE, Sasahara AA, Belko JS. Autologousradioiodinated fibrinogen, simplified. J Nucl Med. 1975 May;16(5):393-401.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB,Weinstein DA, Watson MS; ACMG. Glycogen storage disease type III diagnosis andmanagement guidelines. Genet Med. 2010 Jul;12(7):446-63. doi:10.1097/GIM.0b013e3181e655b6. Erratum in: Genet Med. 2010 Sep;12(9):566.
Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, RodolicoC, Musumeci O, Toscano A, Bresolin N, Comi GP. Hepatic and neuromuscular forms ofglycogenosis type III: nine mutations in AGL. Hum Mutat. 2006 Jun;27(6):600-1.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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