PRENATAL-DIAGNOSIS OF GM2 GANGLIOSIDOSIS WITH HIGH RESIDUAL HEXOSAMINIDASE-A ACTIVITY (VARIANT-B1 - PSEUDO AB VARIANT)

被引：17

作者：

CONZELMANN, E

NEHRKORN, H

KYTZIA, HJ

SANDHOFF, K

MACEK, M

LEHOVSKY, M

ELLEDER, M

JIRASEK, A

KOBILKOVA, J

机构：

[1] CHARLES UNIV, INST PATHOL 1,FAC PEDIAT,CHILD NEUROL CLIN, INST CHILD DEV RES,DEPT MED GENET, CS-11636 PRAGUE 1, CZECHOSLOVAKIA

[2] CHARLES UNIV, GYNECOL & OBSTET CLIN 2, CS-11636 PRAGUE 1, CZECHOSLOVAKIA

来源：

PEDIATRIC RESEARCH | 1985年 / 19卷 / 11期

关键词：

D O I：

10.1203/00006450-198511000-00022

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：1220 / 1224

页数：5

共 40 条

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[8] TAY-SACHS DISEASE - ONE-STEP ASSAY OF BETA-N-ACETYLHEXOSAMINIDASE IN SERUM WITH A SULFATED CHROMOGENIC SUBSTRATE
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