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Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene

  • Case Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).

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Authors and Affiliations

  1. Department of Biochemistry, Centre Hospitalier Universitaire de Nice, Nice

    S. Bekri, G. Armana, M. Osenda & E. Van Obberghen

  2. Lenval Foundation, Nice

    D. De Ricaud

  3. Pediatric Biochemistry Department, Debrousse Hospital, Lyon, France

    I. Maire & R. Froissart

  4. Department of Biochemistry, Centre Hospitalier Universitaire de Nice, 30, avenue de la voie Romaine, 06002, Nice cedex 1, France

    S. Bekri

Authors
  1. S. Bekri
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  2. G. Armana
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  3. D. De Ricaud
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  4. M. Osenda
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  5. I. Maire
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  6. E. Van Obberghen
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  7. R. Froissart
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Corresponding author

Correspondence to S. Bekri.

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Bekri, S., Armana, G., Ricaud, D.D. et al. Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. J Inherit Metab Dis 28, 601–602 (2005). https://doi.org/10.1007/s10545-005-0601-0

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  • DOI: https://doi.org/10.1007/s10545-005-0601-0

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