Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

Pineda, M; Pavia, C; Vilaseca, M A; Ferrer, I; Temudo, T; Chabas, A; Stibler, H; Jaeken, J · Arch Dis Child · 1996

case_report · Level V

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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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