A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF01799255
Reference10 articles.
1. Freeman C, Hopwood JJ (1986) Human liver sulphamate sulphohydrolase.Biochem J 234: 83–92.
2. Hopwood JJ, Elliott H (1981a) Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of Sanfilippo A syndrome with the use of a radiolabelled disaccharide substrate.Clin Sci 61: 729–735.
3. Hopwood JJ, Elliott H (1981b) Radiolabelled oligosaccharides as substrates for the estimation of sulfamidase and the detection of Sanfilippo type A syndrome.Clin Chim Acta 112: 55–66.
4. Hopwood JJ, Elliott H (1982) Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate.Clin Chim Acta 123: 241–250.
5. Kresse H (1973) Mucopolysaccharidosis IIIA (Sanfilippo A disease): deficiency of heparan sulphamidase in skin fibroblasts and leucocytes.Biochem Biophys Res Commun 54: 1111–1118.
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