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    Am J Med Genet. 1992 Sep 15;44(2):142-4.

    Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.

    Source

    Department of Obstetrics/Gynecology, King Faisal Hospital and Research Centre, Riyadh, Saudi Arabia.

    Abstract

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

    PMID:
    1456282
    [PubMed - indexed for MEDLINE]

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