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  • Title: Prenatal tests for Sanfilippo disease type B in four pregnancies.
    Author: Mossman J, Young EP, Patrick AD, Fensom AH, Ellis M, Benson PF, Der Kaloustian VM.
    Journal: Prenat Diagn; 1983 Oct; 3(4):347-50. PubMed ID: 6419220.
    Abstract:
    We report the prenatal diagnosis of two fetuses with Sanfilippo disease type B. In both pregnancies there were excessive amounts of heparan sulphate in amniotic fluid and the activity of N-acetyl-alpha-D-glucosaminidase was undetectable in cultured amniotic fluid cells. The predictions were confirmed by enzyme assay of cultured skin fibroblasts from the aborted fetus or the affected infant. The disorder was excluded for two other pregnancies at risk and the predictions are considered to be correct because of the normal progress of the healthy children.
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