BETA-GLUCURONIDASE DEFICIENCY AS A CAUSE OF FETAL HYDROPS

被引：28

作者：

KAGIE, MJ

KLEIJER, WJ

HUIJMANS, JGM

MAASWINKELMOOY, P

KANHAI, HHH

机构：

[1] UNIV HOSP LEIDEN,DEPT OBSTET,2300 AA LEIDEN,NETHERLANDS

[2] LEIDEN UNIV HOSP,DEPT CLIN GENET,2333 AA LEIDEN,NETHERLANDS

[3] ERASMUS UNIV,HOSP DIJKZIGT,DEPT CLIN GENET,ROTTERDAM,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 05期

关键词：

MUCOPOLYSACCHARIDOSIS TYPE-VII; PRENATAL DIAGNOSIS;

D O I：

10.1002/ajmg.1320420513

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. Beta-glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtained at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured after fetal death in the 26th week of gestation. In the amniotic fluid the two-dimensional electrophoresis pattern of glycosaminoglycans was in agreement with MPS VII. Based on these results, prenatal diagnosis could be offered to the couple for the next pregnancy.

引用

页码：693 / 695

页数：3

共 19 条

[1] 2-DIMENSIONAL ELECTROPHORESIS OF URINARY MUCOPOLYSACCHARIDES ON CELLULOSE-ACETATE AFTER N-CETYLPYRIDINIUMCHLORIDE (CPC) PRECIPITATION - METHOD SUITABLE FOR ROUTINE LABORATORY [J].