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Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
Wang, Yu; Ye, Jun; Qiu, Wen-Juan; Han, Lian-Shu; Gao, Xiao-Lan; Liang, Li-Li; Gu, Xue-Fan; Zhang, Hui-Wen.
  • Wang Y; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Ye J; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Qiu WJ; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Han LS; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Gao XL; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Liang LL; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
  • Gu XF; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. guxuefan@xinhuamed.com.cn.
  • Zhang HW; Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. zhanghuiwen@xinhuamed.com.cn.
Acta Pharmacol Sin ; 40(2): 279-287, 2019 Feb.
Article en En | MEDLINE | ID: mdl-29872134
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transferasas (Grupos de Otros Fosfatos Sustitutos) / Mucolipidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Transferasas (Grupos de Otros Fosfatos Sustitutos) / Mucolipidosis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article