Associated Papers
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL et al.
Jci Insight, 2024
38912588 (PubMed )
Supplement: jciinsight-9-177722-s250.pdf
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
38256266 (PubMed )
Supplement: ijms-25-01192-s001.zip › ijms-2816629-supplementary.xlsx › Table_S5
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.
Oliwa A et al.
Neuromuscular Disorders : Nmd, 2023
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
The potential of dietary treatment in patients with glycogen storage disease type IV.
Derks TGJ et al.
Journal of Inherited Metabolic Disease, 2021
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
Forny P et al.
Jimd Reports, 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
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
Kuhn M et al.
Journal of Neurology, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D et al.
Plos One, 2016
27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS et al.
Human Molecular Genetics, 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
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C et al.
Neurology, 2004
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