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Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as β‐glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. β‐Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal. © 1992 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

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References (8)

Publisher
Wiley
Copyright
Copyright © 1992 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320440205
pmid
1456282
Publisher site
See Article on Publisher Site

Abstract

We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as β‐glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. β‐Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested relatives. The activities of other lysosomal enzymes were normal. © 1992 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Mar 15, 1993

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