Associated Papers
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Wilke MVMB et al.
Biomedicines, 2023
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Carvalho A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E et al.
Archives of Medical Science : Ams, 2018
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS et al.
Human Molecular Genetics, 2015
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
Colombo I et al.
Neuromuscular Disorders : Nmd, 2015
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL et al.
Human Pathology, 2012
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Li SC et al.
Journal of Inherited Metabolic Disease, 2010
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
Nolte KW et al.
Acta Neuropathologica, 2008
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
Massa R et al.
Muscle & Nerve, 2008
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