Condition: Glycogen Storage Disease Type IV


rs1057517315 in GBE1 gene and Glycogen Storage Disease Type IV PMID 12913206 2003 A neonatal form of glycogen storage disease type IV.

PMID 21917543 2012 Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

PMID 25665141 2015 Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

PMID 10545044 1999 A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

PMID 15452297 2004 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

PMID 8613547 1996 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

PMID 26166723 2016 Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

PMID 26886200 2016 Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.

PMID 23218673 2013 Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

PMID 28507268 2017 Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease.

PMID 9851430 1998 Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

PMID 23034915 2012 Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

PMID 19813197 2010 Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.

PMID 25489661 2017 Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.

PMID 20058079 2010 Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

PMID 10762170 2000 Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

PMID 24248152 2014 Branching enzyme deficiency: expanding the clinical spectrum.

PMID 17915577 2007 Neuromuscular forms of glycogen branching enzyme deficiency.

PMID 15520786 2004 "Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1."

PMID 19438752 2009 Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.

PMID 26199317 2015 Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

PMID 8613547 1996 The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.

PMID 20655781 2011 Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways.

PMID 26385640 2015 A novel mouse model that recapitulates adult-onset glycogenosis type 4.

PMID 22106711 2011 Progress and problems in muscle glycogenoses.

PMID 17994551 2008 Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

PMID 25728520 2015 Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.