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
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR et al.
Journal of Inherited Metabolic Disease, 2024
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
Gayed MM et al.
Frontiers in Genetics, 2023
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy.
Butler DC et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2020
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
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
Taratuto AL et al.
Neuromuscular Disorders : Nmd, 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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