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A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

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Journal of Inherited Metabolic Disease

Summary

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211–1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

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References

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Authors and Affiliations

  1. Department of Metabolic Disease, Beatrix Children’s Hospital, PO Box 30001, 9700 RB, Groningen, The Netherlands

    D. H. J. Martens & G. P. A. Smit

  2. Martini Hospital, Groningen, The Netherlands

    J. P. Rake

  3. Emma Children’s Hospital, Academic Medical Center, Amsterdam, The Netherlands

    T. W. Kuijpers & N. A. Maianski

  4. Sanquin Research at Central Laboratory for Blood Transfusion (CLB) Amsterdam, Amsterdam, The Netherlands

    N. A. Maianski

  5. Department of Metabolic Disease, Wilhelmina Children’s Hospital, Utrecht, The Netherlands

    G. Visser

Authors
  1. D. H. J. Martens
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  2. T. W. Kuijpers
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  3. N. A. Maianski
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  4. J. P. Rake
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  5. G. P. A. Smit
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  6. G. Visser
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Corresponding author

Correspondence to D. H. J. Martens.

Additional information

Communicating editor: Guy Besley

Competing interests: None declared

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Martens, D.H.J., Kuijpers, T.W., Maianski, N.A. et al. A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction. J Inherit Metab Dis 29, 224–225 (2006). https://doi.org/10.1007/s10545-006-0146-x

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  • DOI: https://doi.org/10.1007/s10545-006-0146-x

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