𝔖 Bobbio Scriptorium
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Sanfilippo disease in Greece

✍ Scribed by Nicholas G. Beratis; Susan L. Sklower; Lorraine Wilbur; Reuben Matalon

Book ID
115089478
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
293 KB
Volume
29
Category
Article
ISSN
0009-9163

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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