Associated Papers
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Wilke MVMB et al.
Biomedicines, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene.
Choi SY et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 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
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
Zhang L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
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
A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV.
Hizarcioglu-Gulsen H et al.
Jimd Reports, 2014
[AGL gene analysis of a pedigree with glycogen storage disease type III and identification of a novel mutation].
Wu XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
Ban HR et al.
Gut and Liver, 2009
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
Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Ubogu EE et al.
Muscle & Nerve, 2005
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
Bruno C et al.
Neurology, 2004
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.
Klein CJ et al.
Muscle & Nerve, 2004
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC et al.
Annals of Neurology, 2000
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Ziemssen F 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