Nolte KW, Janecke AR, Vorgerd M, Weis J, Schroder JM. Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. 2008 Nov. 116(5):491-506. [QxMD MEDLINE Link].
Akman HO, Sampayo JN, Ross FA, et al. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res. 2007 Oct. 62(4):499-504. [QxMD MEDLINE Link].
Ravenscroft G, Thompson EM, Todd EJ, et al. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscul Disord. 2013 Feb. 23(2):165-9. [QxMD MEDLINE Link].
Raju GP, Li HC, Bali DS, et al. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008 Mar. 23(3):349-52. [QxMD MEDLINE Link].
Mochel F, Schiffmann R, Steenweg ME, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep. 72(3):433-41. [QxMD MEDLINE Link].
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun. 43(6):943-51. [QxMD MEDLINE Link].
Li SC, Hwu WL, Lin JL, et al. Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. J Child Neurol. 2012 Feb. 27(2):204-8. [QxMD MEDLINE Link].
Kwo PY, Cohen SM, Lim JK. ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries. Am J Gastroenterol. 2017 Jan. 112 (1):18-35. [QxMD MEDLINE Link]. [Full Text].
McGill MR. The past and present of serum aminotransferases and the future of liver injury biomarkers. EXCLI J. 2016. 15:817-828. [QxMD MEDLINE Link]. [Full Text].
Escobar LF, Wagner S, Tucker M, Wareham J. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. J Perinatol. 2012 Oct. 32(10):810-3. [QxMD MEDLINE Link].
Yi H, Zhang Q, Yang C, Kishnani PS, Sun B. A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV. JIMD Rep. 2016. 30:89-94. [QxMD MEDLINE Link]. [Full Text].
Konstantinidou AE, Anninos H, Dertinger S, et al. Placental involvement in glycogen storage disease type IV. Placenta. 2008 Apr. 29(4):378-81. [QxMD MEDLINE Link].
Sokal EM, Van Hoof F, Alberti D, de Ville de Goyet J, de Barsy T, Otte JB. Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis. Eur J Pediatr. 1992 Mar. 151(3):200-3. [QxMD MEDLINE Link].
Starzl TE, Demetris AJ, Trucco M, et al. Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. N Engl J Med. 1993 Mar 18. 328(11):745-9. [QxMD MEDLINE Link]. [Full Text].
Romano F, Stroppa P, Bravi M, et al. Favorable outcome of primary liver transplantation in children with cirrhosis and hepatocellular carcinoma. Pediatr Transplant. 2011 Sep. 15(6):573-9. [QxMD MEDLINE Link].
Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. 2005 Jun. 41(6):1407-32. [QxMD MEDLINE Link].
Escobar LF, Wagner S, Tucker M, Wareham J. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. J Perinatol. 2012 Oct. 32(10):810-3. [QxMD MEDLINE Link].
Akman HO, Karadimas C, Gyftodimou Y, et al. Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn. 2006 Oct. 26(10):951-5. [QxMD MEDLINE Link].
Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. 1996 Feb 15. 97(4):941-8. [QxMD MEDLINE Link]. [Full Text].
Brown BI, Brown DH. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. Am J Hum Genet. 1989 Mar. 44(3):378-81. [QxMD MEDLINE Link]. [Full Text].
Bruno C, van Diggelen OP, Cassandrini D, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28. 63(6):1053-8. [QxMD MEDLINE Link].
Burrow TA, Hopkin RJ, Bove KE, et al. Non-lethal congenital hypotonia due to glycogen storage disease type IV. Am J Med Genet A. 2006 Apr 15. 140(8):878-82. [QxMD MEDLINE Link].
Giuffre B, Parini R, Rizzuti T, et al. Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings. J Inherit Metab Dis. 2004. 27(5):609-19. [QxMD MEDLINE Link].
L'hermine-Coulomb A, Beuzen F, Bouvier R, et al. Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family. Am J Med Genet A. 2005 Dec 1. 139A(2):118-22. [QxMD MEDLINE Link].
Lossos A, Meiner Z, Barash V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol. 1998 Dec. 44(6):867-72. [QxMD MEDLINE Link].
Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A. Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. Muscle Nerve. 2008 Apr. 37(4):530-6. [QxMD MEDLINE Link].
McConkie-Rosell A, Wilson C, Piccoli DA, et al. Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis. 1996. 19(1):51-8. [QxMD MEDLINE Link].
Nambu M, Kawabe K, Fukuda T, et al. A neonatal form of glycogen storage disease type IV. Neurology. 2003 Aug 12. 61(3):392-4. [QxMD MEDLINE Link].
Nase S, Kunze KP, Sigmund M, Schroeder JM, Shin Y, Hanrath P. A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy. Eur Heart J. 1995 Nov. 16(11):1698-704. [QxMD MEDLINE Link].
Selby R, Starzl TE, Yunis E, et al. Liver transplantation for type I and type IV glycogen storage disease. Eur J Pediatr. 1993. 152 Suppl 1:S71-6. [QxMD MEDLINE Link]. [Full Text].
Servidei S, Riepe RE, Langston C, et al. Severe cardiopathy in branching enzyme deficiency. J Pediatr. 1987 Jul. 111(1):51-6. [QxMD MEDLINE Link].
Shen J, Liu HM, McConkie-Rosell A, Chen YT. Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. 1999 Sep. 19(9):837-9. [QxMD MEDLINE Link].