Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

Background: Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. This report conducted a retrospective analysis to investigate the clinical characteristics, genotypes and ma...

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Detalles Bibliográficos
Autores principales: Zhang, Zhenjie, Ma, Mingsheng, Zhang, Weimin, Zhou, Yu, Yao, Fengxia, Zhu, Lisi, Wei, Min, Qiu, Zhengqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880164/
https://www.ncbi.nlm.nih.gov/pubmed/36713083
http://dx.doi.org/10.3389/fgene.2023.1103620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880164/
https://www.ncbi.nlm.nih.gov/pubmed/36713083
http://dx.doi.org/10.3389/fgene.2023.1103620

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