A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation

@article{Raju2008ACO,
  title={A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation},
  author={G Praveen Raju and Hsin-Chang Li and Deeksha S. Bali and Yuan-Tsong Chen and David K. Urion and H G W Lidov and Peter B Kang},
  journal={Journal of Child Neurology},
  year={2008},
  volume={23},
  pages={349 - 352}
}
  • G Praveen Raju, Hsin-Chang Li, +4 authors Peter B Kang
  • Published in Journal of child neurology 2008
  • Medicine
  • Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype of glycogen storage disease type IV who presented with polyhydramnios, hydrops fetalis, bilateral ankle contractures, biventricular cardiac dysfunction, and severe facial and extremity weakness. A… CONTINUE READING

    Create an AI-powered research feed to stay up to date with new papers like this posted to ArXiv

    Citations

    Publications citing this paper.
    SHOWING 1-10 OF 13 CITATIONS

    Glycogen metabolism in Lafora disease

    VIEW 1 EXCERPT
    CITES BACKGROUND

    Orthopaedic abnormalities in primary myopathies.

    VIEW 5 EXCERPTS
    HIGHLY INFLUENCED

    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 17 REFERENCES

    Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

    Non-lethal congenital hypotonia due to glycogen storage disease type IV.

    VIEW 1 EXCERPT