Article
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
Archives of disease in childhood - 1 Mar 1996
Pineda M, Pavia C, Vilaseca M A, Ferrer I, Temudo T, Chabas A, Stibler H, Jaeken J
Abstract excerpt
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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