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- W2040496346 abstract "Mucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. β-glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtanined at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured atter fetal death in the 26th week of gestation. In the amniotic fluid the two-dimensional eletrophoresis pattern of glycosaminoglycans was in agreement with MPS VII. Based on these results, prenatal diagnosis could be offered to the couple for the next pregnancy." @default.
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- W2040496346 date "1992-03-01" @default.
- W2040496346 modified "2023-09-25" @default.
- W2040496346 title "β-glucuronidase deficiency as a cause of fetal hydrops" @default.
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- W2040496346 doi "https://doi.org/10.1002/ajmg.1320420513" @default.
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