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References

These sources were used to develop the Genetics Home Reference condition summary on adult polyglucosan body disease.

Gene Review: Adult Polyglucosan Body Disease
Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. PubMed citation
Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. 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. PubMed citation
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. PubMed citation
Milde P, Guccion JG, Kelly J, Locatelli E, Jones RV. Adult polyglucosan body disease. Arch Pathol Lab Med. 2001 Apr;125(4):519-22. PubMed citation
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598. PubMed citation
Savage G, Ray F, Halmagyi M, Blazely A, Harper C. Stable neuropsychological deficits in adult polyglucosan body disease. J Clin Neurosci. 2007 May;14(5):473-7. Epub 2006 May 30. PubMed citation
Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Schröder JM, Malin JP, Vorgerd M. Adult polyglucosan body disease: a postmortem correlation study. Neurology. 2003 Jul 22;61(2):263-5. PubMed citation