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The laboratory diagnosis of sanfilippo disease

โœ Scribed by Paul Whiteman; Elisabeth Young


Book ID
115821602
Publisher
Elsevier Science
Year
1977
Tongue
English
Weight
639 KB
Volume
76
Category
Article
ISSN
0009-8981

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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

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