Subject Areas on Research
- A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
- A novel thermostable branching enzyme from an extremely thermophilic bacterial species, Rhodothermus obamensis.
- Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.
- Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
- Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.
- Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
- Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
- Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
- Non-lethal congenital hypotonia due to glycogen storage disease type IV.
- Prenatal diagnosis in glycogen storage diseases.
- Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
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