Associated Papers
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR et al.
Journal of Inherited Metabolic Disease, 2024
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
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
Taratuto AL et al.
Neuromuscular Disorders : Nmd, 2010
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
Nolte KW et al.
Acta Neuropathologica, 2008
Placental involvement in glycogen storage disease type IV.
Konstantinidou AE et al.
Placenta, 2008
Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
Janecke AR et al.
The Journal of Pediatrics, 2004
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