换一批Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
第一作者：
Yingjun,Liang
第一单位：
Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665 #, Shanghai, 200092, China.
作者：
医学主题词
儿童(Child);儿童, 学龄前(Child, Preschool);人类(Humans);婴儿(Infant);乙酰基转移酶类(Acetyltransferases);等位基因(Alleles);硫酸乙酰肝素(Heparitin Sulfate);黏多糖累积病Ⅲ型(Mucopolysaccharidosis III);突变(Mutation)
DOI
10.1007/s11011-023-01204-8
PMID
37014526
发布时间
2025-03-03
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Metabolic brain disease
2013-2023页
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