Condition: GSD IV, Classic Hepatic


rs1057517315 in GBE1 gene and GSD IV, Classic Hepatic 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 15452297 2004 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

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

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

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

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

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

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

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

PMID 17915577 2007 Neuromuscular forms of glycogen branching enzyme deficiency.

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

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

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

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

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