Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy |
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Authors: | Magnus Stangenberg Gran Lingman George Roberts Pinar Ozand |
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Institution: | Magnus Stangenberg,Göran Lingman,George Roberts,Pinar Ozand |
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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. |
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Keywords: | fetal hydrops β -glucuronidase mucopolysaccharidosis |
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