×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Teaching NeuroImages : Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease.
28507268 2017
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.
25489661 2017
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
26886200 2016
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
26166723 2016
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
25665141 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
26199317 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.
25728520 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
26199317 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.
25665141 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE ).26385640 2015
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Branching enzyme deficiency: expanding the clinical spectrum.
24248152 2014
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
23218673 2013
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
23034915 2012
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
23034915 2012
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
21917543 2012
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.
20655781 2011
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Progress and problems in muscle glycogenoses.
22106711 2011
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
A variety of disease-causing mutations have been identified in the GBE1 gene in GSD IV patients, many of whom presented with diverse clinical phenotypes.
20058079 2010
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
A variety of disease-causing mutations have been identified in the GBE1 gene in GSD IV patients, many of whom presented with diverse clinical phenotypes.
20058079 2010
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
19813197 2010
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
19438752 2009
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
17994551 2008
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV ), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues.
17915577 2007
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
CLINVAR
This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.
15452297 2004
×
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
CausalMutation
CLINVAR
This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous.
15452297 2004