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Mutation analysis in glycogen storage disease type 1 non-a

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Abstract.

We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a). Analysis of G6PT encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients.

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Authors and Affiliations

  1. Institute of Medical Biology and Human Genetics, University of Innsbruck, Schöpfstrasse 41, 6020 Innsbruck, Austria, , , , ,

    Andreas R. Janecke, Martin Erdel, Friedrich Fresser & Gerd Utermann

  2. Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany, , , , ,

    Martin Lindner, Ertan Mayatepek & Georg F. Hoffmann

  3. University Children's Hospital, Vienna, Austria, , , , ,

    Dorothea Möslinger & Silvia Stöckler-Ipsiroglu

  4. Labor für Stoffwechselgenetik, Munich, Germany, , , , ,

    Teodor Podskarbi

Authors
  1. Andreas R. Janecke
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  2. Martin Lindner
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  3. Martin Erdel
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  4. Ertan Mayatepek
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  5. Dorothea Möslinger
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  6. Teodor Podskarbi
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  7. Friedrich Fresser
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  8. Silvia Stöckler-Ipsiroglu
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  9. Georg F. Hoffmann
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  10. Gerd Utermann
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Janecke, A., Lindner, M., Erdel, M. et al. Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet 107, 285–289 (2000). https://doi.org/10.1007/s004390000371

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  • DOI: https://doi.org/10.1007/s004390000371

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