Severe form of type II glycogenosis in a heterozygote compound (Tyr-292→Cys/Arg-854→stop) child

被引：8

作者：

Castro-Gago, M

Eirís-Puñal, J

Rodriguez-Núñez, A

Pintos-Martínez, E

Benlloch-Marín, T

Barros-Angueira, F

机构：

[1] Hosp Gen Galicia, Serv Neuropediat, Dept Pediat, E-15705 Santiago De Compostela, Spain

[2] Hosp Gen Galicia, Serv Cuidados Intens Pediat, E-15705 Santiago De Compostela, Spain

[3] Hosp Gen Galicia, Serv Anat Patol, E-15705 Santiago De Compostela, Spain

[4] Univ Santiago, Complejo Hosp, SERGAS, E-15705 Santiago De Compostela, Spain

[5] Univ Autonoma Madrid, Fac Med, Dept Bioquim, Unidad Diagnost Enzimopatias, Madrid, Spain

[6] Univ Santiago, Unidad Med Mol, Hosp Conxo, Complejo Hosp,SERGAS, E-15705 Santiago De Compostela, Spain

来源：

REVISTA DE NEUROLOGIA | 1999年 / 29卷 / 01期

关键词：

1,4-alpha-glucosidase; compound heterozygote; GAA gen; muscular glycogenosis; type II glycogenosis;

D O I：

10.33588/rn.2901.99082

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：46 / 49

页数：4

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