Sanfilippo syndrome type C: assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1981.tb01807.x/fullpdf
Reference12 articles.
1. The San-filippo B corrective factor. A N-acetyl-α-D-glucosaminidase;Figura;Biochem. Biophys. Res. Commun.,1972
2. Human α-N-acetylgluco-saminidase I. Purification and properties;Figura;Europ. J. Biochem.,1977
3. Kolorimetrische Mikromethode zur Bestim-mung des GesamteiweiBes in eiweiBarmen Flttssigkeiten;Kaltwasser;Clin. chim. Acta.,1967
4. Sanfilippo syndrome type C: Deficiency of acetyl-CoA:α-glucosaminide N-acetyltransferase in skin fibroblasts;Klein;Proc. nat. Acad. Sci. (Wash.),1978
5. A 3H-la-belled trisaccharide from heparin as substrate for acetyl-CoA:2-amino-2-deoxy-α-D-glucoside N-acetyltransferase;Klein;Carbohyd. Res.,1980
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