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GBE1 Adult Polyglucosan Body Disease.
Akman HO, Lossos A, Kakhlon O. Akman HO, et al. 2009 Apr 2 [updated 2020 Sep 17]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2009 Apr 2 [updated 2020 Sep 17]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301758 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and …
CLINICAL CHARACTERISTICS: Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present …
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. ...
The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative di …
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO, DiMauro S. Souza PVS, et al. J Inherit Metab Dis. 2021 May;44(3):534-543. doi: 10.1002/jimd.12325. Epub 2020 Nov 13. J Inherit Metab Dis. 2021. PMID: 33141444 Review.
Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and seco …
Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorde …
Characterization of cognitive impairment in adult polyglucosan body disease.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M. Zebhauser PT, et al. J Neurol. 2022 Jun;269(6):2854-2861. doi: 10.1007/s00415-022-10960-z. Epub 2022 Jan 8. J Neurol. 2022. PMID: 34999962 Free PMC article.
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerative disorder due to pathogenic variants in GBE1. ...
Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal recessive neurodegenerati …
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Free PMC article. Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autosomal dominant …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, met …
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Carvalho A, Nunes J, Taipa R, Melo Pires M, Pinto Basto J, Barros P. Carvalho A, et al. Neurol Sci. 2021 Jul;42(7):2955-2959. doi: 10.1007/s10072-021-05096-3. Epub 2021 Jan 31. Neurol Sci. 2021. PMID: 33517539 Review.
INTRODUCTION: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder starting after 40 years old, spastic paraparesis and peripheral neuropathy. ...
INTRODUCTION: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by n …
Case 318: Adult Polyglucosan Body Disease.
Van den Borre E, Cypers G, Vanhoenacker P, Dekeyzer S. Van den Borre E, et al. Radiology. 2023 Oct;309(1):e220598. doi: 10.1148/radiol.220598. Radiology. 2023. PMID: 37906012
Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.
Dugue AG, Abreu NJ, Pillai C, Galetta SL, Grossman SN. Dugue AG, et al. J Neuroophthalmol. 2025 Mar 1;45(1):55-62. doi: 10.1097/WNO.0000000000002186. Epub 2024 Aug 15. J Neuroophthalmol. 2025. PMID: 39143664 Free PMC article. Review.
BACKGROUND: Adult polyglucosan body disease (APBD) is caused by a deficiency in glycogen branching enzyme that leads to polyglucosan accumulation in multiple organs. ...
BACKGROUND: Adult polyglucosan body disease (APBD) is caused by a deficiency in glycogen branching enzyme that l …
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA. Chown EE, et al. Ann Clin Transl Neurol. 2020 Nov;7(11):2186-2198. doi: 10.1002/acn3.51211. Epub 2020 Oct 9. Ann Clin Transl Neurol. 2020. PMID: 33034425 Free PMC article.
OBJECTIVE: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage disease type IV. ...
OBJECTIVE: Adult polyglucosan body disease (APBD) is an adult-onset neurological variant of glycogen storage dis …
135 results