Glycogen storage disease

[1]. Ali-Reza Moslemi, et al. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med. 2010 Apr 1;362(13):1203-10. [Content Brief]

[2]. Barbara Burwinkel, et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6):1034-49. [Content Brief]

[3]. David A Weinstein, et al. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab. 2006 Apr;87(4):284-8. [Content Brief]

[4]. G P Comi, et al. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol. 2001 Aug;50(2):202-7. [Content Brief]

[5]. Hasan Ozen, et al. Glycogen storage diseases: new perspectives. World J Gastroenterol. 2007 May 14;13(18):2541-53. [Content Brief]

[6]. J Hendrickx, et al. Genetic deficiencies of the glycogen phosphorylase system. Hum Genet. 1996 May;97(5):551-6. [Content Brief]

[7]. J J Shen, et al. Molecular characterization of glycogen storage disease type III. Curr Mol Med. 2002 Mar;2(2):167-75. [Content Brief]

[8]. J Kreuder, et al. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med. 1996 Apr 25;334(17):1100-4. [Content Brief]

[9]. Janice Yang Chou, et al. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med. 2002 Mar;2(2):121-43. [Content Brief]

[10]. M Maekawa, et al. Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem Biophys Res Commun. 1990 Apr 30;168(2):677-82. [Content Brief]

[11]. Nina Raben, et al. Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med. 2002 Mar;2(2):145-66. [Content Brief]

[12]. R Santer, et al. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med. 2002 Mar;2(2):213-27. [Content Brief]

[13]. S Dimaur, et al. Myophosphorylase deficiency (glycogenosis type V; McArdle disease). Curr Mol Med. 2002 Mar;2(2):189-96. [Content Brief]

[14]. Shimon W Moses, et al. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002 Mar;2(2):177-88. [Content Brief]

[15]. Tanya Stojkovic, et al. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009 Jul 23;361(4):425-7. [Content Brief]

[16]. Yoon S Shin, et al. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006 Jun;13(2):115-20. [Content Brief]