Article Text

Download PDFPDF

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
  1. M Pineda,
  2. C Pavia,
  3. M A Vilaseca,
  4. I Ferrer,
  5. T Temudo,
  6. A Chabas,
  7. H Stibler,
  8. J Jaeken
  1. Department of Neuropaediatrics, University Hospital of Sant Joan de Déu, Barcelona, Spain.


    A girl is reported who presented with many of the clinical and biochemical characteristics of type I carbohydrate deficient glycoprotein syndrome. Unusually, however, she experienced a normal pubertal development.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.