William Stone. Glycogen Storage Disease. Abdullah Adil. StatPearls. October 14, 2017. Treasure Island (FL): StatPearls Publishing LLC; 2018 Jan. [Full Text].
Brown LM, Corrado MM, van der Ende RM, Derks TG, Chen MA, Siegel S, et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inherit Metab Dis. 2014 Jul 29. [Medline].
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders. Br J Radiol. 2014 Jan. 87(1033):20130467. [Medline]. [Full Text].
Tang NL, Hui J, Young E, et al. A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity. Mol Genet Metab. 2003 Jun. 79(2):142-5. [Medline].
Wolfsdorf JI, Holm IA, Weinstein DA. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. Endocrinol Metab Clin North Am. 1999 Dec. 28(4):801-23. [Medline].
Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. Hum Mol Genet. 1998 May. 7 (5):865-70. [Medline].
Davit-Spraul A, Piraud M, Dobbelaere D, Valayannopoulos V, Labrune P, Habes D, et al. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab. 2011 Sep-Oct. 104 (1-2):137-43. [Medline].
Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, et al. High frequency of missense mutations in glycogen storage disease type VI. J Inherit Metab Dis. 2007 Oct. 30 (5):722-34. [Medline].
Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, et al. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. Mol Genet Metab. 2014 Nov. 113 (3):171-6. [Medline].
Bali DS, Chen YT, Austin S, Goldstein JL. Glycogen Storage Disease Type I. Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews. August 25, 2016. University of Washington, Seattle: 1993. [Full Text].
Jose Morales. Glycogen Storage Disease, Type II (Pompe Disease). Steve Bhimji. StatPearls. November 25, 2017. Treasure Island (FL): StatPearls Publishing LLC; 2018 Jan. [Full Text].
Manzia TM, Angelico R, Toti L, Cillis A, Ciano P, Orlando G, et al. Glycogen storage disease type Ia and VI associated with hepatocellular carcinoma: two case reports. Transplant Proc. 2011 May. 43(4):1181-3. [Medline].
Zingone A, Hiraiwa H, Pan CJ. Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem. 2000 Jan 14. 275(2):828-32. [Medline].
Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov. 189(3):416-24. [Medline].
Asami T, Kikuchi T, Asami K. Effect of clonidine on the height of a child with glycogen storage disease type VI: a 13 year follow-up study. Acta Paediatr Jpn. 1996 Oct. 38(5):524-8. [Medline].
Ji HF, Wang WL, Shen Y, et al. Reduced-size liver transplantation for glycogen storage disease. Hepatobiliary Pancreat Dis Int. 2009 Feb. 8(1):106-8. [Medline].
Amato AA. Acid maltase deficiency and related myopathies. Neurol Clin. 2000 Feb. 18(1):151-65. [Medline].
Aminoff MJ, ed. Electromyography in Clinical Practice. 3rd ed. New York, NY: Churchill Livingstone; 1998.
Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000 Jan. 105(1):e10. [Medline].
Burwinkel B, Bakker HD, Herschkovitz E. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Am J Hum Genet. 1998 Apr. 62(4):785-91. [Medline].
Chen Y. Glycogen Storage Diseases. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2000. Vol 1: 1537-8.
DiMauro S, Bruno C. Glycogen storage diseases of muscle. Curr Opin Neurol. 1998 Oct. 11(5):477-84. [Medline].
Goldberg T, Slonim AE. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. 1993 Dec. 93(12):1423-30. [Medline].
Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. 1998 Aug 1. 102(3):507-15. [Medline].
Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990. 13(4):411-8. [Medline].
Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. 1982 Dec 27. 150(2):489-93. [Medline].