Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy

被引：9

作者：

Geipel, A ^{[1
]}

Berg, C

Germer, U

Krapp, M

Kohl, M

Gembruch, U

机构：

[1] Med Univ Lubeck, Dept Obstet & Gynaecol, Sch Med, Lubeck, Germany

[2] Med Univ Lubeck, Sch Med, Dept Paediat, Lubeck, Germany

来源：

PRENATAL DIAGNOSIS | 2002年 / 22卷 / 06期

关键词：

nuchal translucency; non-immune fetal hydrops; mucopolysaccharidosis; beta-glucuroindase deficiency; prenatal diagnosis;

D O I：

10.1002/pd.330

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：493 / 495

页数：3

共 8 条

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Los, FJ ;

Wladimiroff, JW ;

Niermeijer, MF .

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[2]

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[3]

2-X

[4]

Lake BD, 1998, BRAIN PATHOL, V8, P133

[5]

Stone D L, 1999, Adv Pediatr, V46, P409

[6]

VanDorpe J, 1996, GENET COUNSEL, V7, P105

[7]

VANEYNDHOVEN HW, 1998, PRENAT DIAGN, V13, P429

[8]

Vervoort R, 1996, AM J HUM GENET, V58, P457

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