Sanfilippo Type C Diagnosis: Assay of Acetyl-CoA: αGlucosaminide N-Acetyltransferase Using [14C]Glucosamine as Substrate and Leukocytes as Enzyme Source
- 1 June 1984
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 18 (6) , 543-545
- https://doi.org/10.1203/00006450-198406000-00013
Abstract
Summary: We describe an assay for acetyl-CoA: α-glucosaminide N-acetyltransferase using purified [14C]glucosamine as substrate, and leukocytes as enzyme source. The assay is suitable for the diagnosis of homozygous and heterozygous carriers of Sanfilippo syndrome type C.Keywords
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