Phosphomannomutase deficiency and normal pubertal development

被引:11
作者
Artigas, J
Cardo, E
Pineda, M
Nosas, R
Jaeken, J
机构
[1] Consorci Hosp Parc Tauli, Serv Pediat, Unitat Neuropediat, Barcelona 08208, Spain
[2] Hosp St Joan de Deu, Neurol Serv, Barcelona 08034, Spain
[3] Katholieke Univ Leuven, Dept Paediat, B-3001 Louvain, Belgium
关键词
D O I
10.1023/A:1005323700680
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:78 / 79
页数:2
相关论文
共 3 条
[1]  
DEZEGHER F, 1995, PEDIATR RES, V37, P395
[2]   Carbohydrate deficient glycoprotein (CDG) syndrome type I [J].
Jaeken, J ;
Matthijs, G ;
Barone, R ;
Carchon, H .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (01) :73-76
[3]   Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome [J].
Pineda, M ;
Pavia, C ;
Vilaseca, MA ;
Ferrer, I ;
Temudo, T ;
Chabas, A ;
Stibler, H ;
Jaeken, J .
ARCHIVES OF DISEASE IN CHILDHOOD, 1996, 74 (03) :242-243