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
Second trimester prenatal diagnosis of Sanfilippo syndrome type C
β Scribed by I. Maire; S. Epelbaum; M. Piraud; G. Mandon; R. Dumoulin; M. Mathieu
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 143 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0141-8955
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