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Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome
M Pineda1, C Pavia, M A Vilaseca
1Department of Neuropaediatrics, University Hospital of Sant Joan de Déu, Barcelona, Spain.
Archives of Disease in Childhood
|March 1, 1996
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.