Second trimester prenatal diagnosis of Sanfilippo syndrome type C.
作者信息
Maire I, Epelbaum S, Piraud M, Mandon G, Dumoulin R, Mathieu M
机构信息
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
出版信息
J Inherit Metab Dis. 1993;16(3):584-6. doi: 10.1007/BF00711688.
PMID:7609458
Abstract
摘要
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本文引用的文献
1
Sanfilippo type C diagnosis: assay of acetyl-CoA: alpha-glucosaminide N-acetyltransferase using [14C]glucosamine as substrate and leukocytes as enzyme source.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。
Pediatr Res. 1984 Jun;18(6):543-5. doi: 10.1203/00006450-198406000-00013.
2
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.IIIC型黏多糖贮积症（Sanfilippo综合征）：一个大型土耳其家系中的早期临床表现
Clin Genet. 1988 Aug;34(2):116-21. doi: 10.1111/j.1399-0004.1988.tb02846.x.
3
First-trimester prenatal diagnosis of Sanfilippo C disease.黏多糖贮积症Ⅲ型C型的孕早期产前诊断
Prenat Diagn. 1987 Oct;7(8):603-5. doi: 10.1002/pd.1970070811.
4
Sanfilippo disease, type C: three cases in the same family.C型桑菲利波病：同一家庭中的三例病例
Neuropediatrics. 1989 May;20(2):90-2. doi: 10.1055/s-2008-1071272.
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