Associated Papers
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Taylor A et al.
Molecular Genetics and Metabolism, 2025
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL et al.
Jci Insight, 2024
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M et al.
Human Mutation, 2022
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Ichimoto K et al.
Molecular Genetics and Metabolism Reports, 2020
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.
Iijima H et al.
Molecular Genetics and Metabolism Reports, 2018
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
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
Sampaolo S et al.
Neuromuscular Disorders : Nmd, 2015
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C et al.
Jama Neurology, 2014
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Mochel F et al.
Annals of Neurology, 2012
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
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC et al.
Annals of Neurology, 2000
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Bruno C et al.
Neuromuscular Disorders : Nmd, 1999
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
Shen J et al.
Prenatal Diagnosis, 1999
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y et al.
The Journal of Clinical Investigation, 1996