×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
BEFREE
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
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
Biomarker
BEFREE
Deficiency of glycogen branching enzyme (GBE ) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues.
27832700
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
GeneticVariation
BEFREE
A novel GBE1 gene variant in a child with glycogen storage disease type IV .
27107456
2016
×
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
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
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
Biomarker
MGD
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
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
GeneticVariation
BEFREE
GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype.
23218673
2013
×
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
Biomarker
GENOMICS_ENGLAND
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.
23137060
2012
×
Entrez Id:
2632
Gene Symbol:
GBE1
GBE1
Glycogen Storage Disease Type IV
1.000
GeneticVariation
BEFREE
A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain.
22305237
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
Biomarker
BEFREE
Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme .
21917543
2012