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

Li, Xiaohua; Xiao, Rui; Chen, Baiyu; Yang, Guanglu; Zhang, Xiaomeng; Fu, Zhuo; Fu, Junxian; Zhuang, Mengli; Huang, Yinglong

Li, Xiaohua; Xiao, Rui; Chen, Baiyu; Yang, Guanglu; Zhang, Xiaomeng; Fu, Zhuo; Fu, Junxian; Zhuang, Mengli; Huang, Yinglong.

Afiliación

Li X; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Xiao R; Key Laboratory of Molecular Pathology, Inner Mongolia Medical University.
Chen B; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Yang G; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Zhang X; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Fu Z; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Fu J; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Zhuang M; Department of Pediatrics, Affiliated Hospital of Inner Mongolia Medical University.
Huang Y; Department of Gastroenterology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, P.R. China.

Medicine (Baltimore) ; 97(52): e13758, 2018 Dec.

Article en En | MEDLINE | ID: mdl-30593151

Asunto(s)

Hidrolasas/genética; Mucopolisacaridosis III/genética; Mutación Missense/genética; Niño; Femenino; Humanos; Mucopolisacaridosis III/patología; Linaje

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mucopolisacaridosis III / Mutación Missense / Hidrolasas Límite: Child / Female / Humans Idioma: En Revista: Medicine (Baltimore) Año: 2018 Tipo del documento: Article

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