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A juvenile variant of glycogenosis IV (Andersen disease)

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Abstract

An unusual patient with Andersen disease (glycogenosis type IV) is presented, with only relatively mild clinical symptoms at the age of 8 years. The patient has a profound deficiency of glycogen-branching enzyme.

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Authors and Affiliations

  1. Department of Paediatrics, Hospital S. João, Porto, Portugal

    A. S. Guerra, R. M. Tsou & N. Teixeira Santos

  2. Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, the Netherlands

    O. P. van Diggelen

  3. Department of Pathology, Hospital S. João, Porto, Portugal

    F. Carneiro

Authors
  1. A. S. Guerra
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  2. O. P. van Diggelen
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  3. F. Carneiro
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  4. R. M. Tsou
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  5. S. Simoēs
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  6. N. Teixeira Santos
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Guerra, A.S., van Diggelen, O.P., Carneiro, F. et al. A juvenile variant of glycogenosis IV (Andersen disease). Eur J Pediatr 145, 179–181 (1986). https://doi.org/10.1007/BF00446059

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  • DOI: https://doi.org/10.1007/BF00446059

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