Prenatal diagnosis of Sanfilippo disease
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W. J. Kleijer; J. G. M. Huijmans; W. Blom; D. Gorska; J. Kubalska; M. Walasek; J
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Article
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1984
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Springer
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English
โ 315 KB
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 demonstrate