Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA,Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S,Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S,Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzymedeficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8.
Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adultpolyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8.
Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z,Shpitzen S, Meiner V. Adult polyglucosan body disease in Ashkenazi Jewishpatients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.Ann Neurol. 1998 Dec;44(6):867-72.
Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.Adult polyglucosan body disease: proton magnetic resonance spectroscopy of thebrain and novel mutation in the GBE1 gene. Muscle Nerve. 2008 Apr;37(4):530-6.
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: NaturalHistory and Key Magnetic Resonance Imaging Findings. Ann Neurol. 2012Sep;72(3):433-41. doi: 10.1002/ana.23598.
Moses SW, Parvari R. The variable presentations of glycogen storage diseasetype IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med.2002 Mar;2(2):177-88. Review.
Nolte KW, Janecke AR, Vorgerd M, Weis J, Schröder JM. Congenital type IVglycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve,and spinal cord with two novel mutations in the GBE1 gene. Acta Neuropathol. 2008Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Vivi Li
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?