Associated Papers
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
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS et al.
Human Molecular Genetics, 2015
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
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC 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
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Bao Y et al.
The Journal of Clinical Investigation, 1996
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