Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

被引：17

作者：

Pineda, M

Pavia, C

Vilaseca, MA

Ferrer, I

Temudo, T

Chabas, A

Stibler, H

Jaeken, J

机构：

[1] INST CLIN BIOCHEM,DEPT ENDOCRINOL,BARCELONA,SPAIN

[2] INST CLIN BIOCHEM,DEPT BIOCHEM,BARCELONA,SPAIN

[3] KAROLINSKA HOSP,DEPT NEUROL,S-10401 STOCKHOLM,SWEDEN

[4] UNIV HOSP GASTHUISBERG,DEPT PAEDIAT,CTR METAB DIS,B-3000 LOUVAIN,BELGIUM

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 1996年 / 74卷 / 03期

关键词：

carbohydrate deficient glycoprotein syndromes; sialotransferrins; pubertal development;

D O I：

10.1136/adc.74.3.242

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：242 / 243

页数：2

共 7 条

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