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Research Article
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.

    Abstract

    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.

    https://doi.org/10.1136/adc.74.3.242

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