Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome. |
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| Authors: | M Pineda C Pavia M A Vilaseca I Ferrer T Temudo A Chabas H Stibler J Jaeken |
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| Affiliation: | Department of Neuropaediatrics, University Hospital of Sant Joan de Déu, Barcelona, Spain. |
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| 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. |
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