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Prenatal diagnosis of Sanfilippo disease type B

✍ Scribed by W. J. Kleijer; J. G. M. Huijmans; W. Blom; D. Gorska; J. Kubalska; M. Walasek; J. Zaremba

Publisher: Springer
Year: 1984
Tongue: English
Weight: 315 KB
Volume: 66
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00287628

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✦ Synopsis

The prenatal diagnosis of a fetus affected with Sanfilippo disease type B is described. The deficiency of alpha-N-acetylglucosaminidase in the cultured amniotic fluid cells was shown by a microassay enabling early prenatal diagnosis. In addition an increased level of heparan sulphate was demonstrated in the amniotic fluid by two-dimensional electrophoresis of glycosaminoglycans. The latter result confirmed the value of this test as an adjunctive method in the prenatal diagnosis. The pregnancy was terminated and the prenatal diagnosis was confirmed by enzyme analysis of cultured fetal fibroblasts and fetal liver.

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