A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA

RATIONALE: The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrolase (SGSH) in 1 pedigree. PATIENT CONCERNS: An 8-year-old female patient presented with d...

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Detalles Bibliográficos
Autores principales: Li, Xiaohua, Xiao, Rui, Chen, Baiyu, Yang, Guanglu, Zhang, Xiaomeng, Fu, Zhuo, Fu, Junxian, Zhuang, Mengli, Huang, Yinglong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314651/
https://www.ncbi.nlm.nih.gov/pubmed/30593151
http://dx.doi.org/10.1097/MD.0000000000013758

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314651/
https://www.ncbi.nlm.nih.gov/pubmed/30593151
http://dx.doi.org/10.1097/MD.0000000000013758

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