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We describe an assay for acetyl-CoA: alpha-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.

pediatric research

Sanfilippo Type C Diagnosis: Assay of Acetyl-CoA: αGlucosaminide N-Acetyltransferase Using [14C]Glucosamine as Substrate and Leukocytes as Enzyme Source