A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)

Author:

Voznyi Ya. V.,Karpova E. A.,Dudukina T. V.,Tsvetkova I. V.,Boer A. M.,Janse H. C.,van Diggelen O. P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Hopwood JJ, Elliot E (1981) The diagnosis of the Sanfilippo C syndrome using monosaccharides and oligosaccharides to assay acetyl-CoA: 2-amino-2-deoxy ?-glucosideN-acetyltransferase activity.Clin Chim Acta 112: 67?75.

2. Karpova EA, Voznyi Ya V, Dudukina TV, Tsvetkova IV (1991) 4-Trifluoromethylumbelliferyl glycosides as new substrates for revealing diseases connected with hereditary deficiency of lysosome glycosidases.Biochem Int 24: 1135?1144.

3. Klein U, Kresse H, von Figura K (1978) Sanfilippo syndrome type C: Deficiency of acetyl-CoA: ?-glucosaminideN-acetyltransferase.Proc Natl Acad Sci USA 75: 5185?5189.

4. Klein U, van de Kamp JJP, von Figura K, Pohlman R (1981) Sanfilippo syndrome type C: assay for acetyl-CoA: ?-glucosaminideN-acetyltransferase in leucocytes for detection of homozygous and heterozygous individuals.Clin Genet 20: 55?59.

5. Neufeld EF, Muenzer J (1989) The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly MD, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1565?1588.

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