Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy
- 15 September 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 44 (2) , 142-144
- https://doi.org/10.1002/ajmg.1320440205
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.Keywords
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