桑菲利波综合征C型诊断：以[14C]葡糖胺为底物、白细胞为酶源的乙酰辅酶A：α-葡糖胺N-乙酰基转移酶测定法。
Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.
作者信息
Pallini R, Leder I G, di Natale P
出版信息
Pediatr Res. 1984 Jun;18(6):543-5. doi: 10.1203/00006450-198406000-00013.
Abstract
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.
摘要
我们描述了一种以纯化的[14C]葡糖胺为底物、白细胞为酶源的乙酰辅酶A：α-葡糖胺N-乙酰基转移酶检测方法。该检测方法适用于C型桑菲利波综合征纯合子和杂合子携带者的诊断。
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