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Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing.
Tang, Jie; Chang, Guoying; Wei, Meili; Li, Xin; Chen, Hongzhu; Qin, Yanrong; Wang, Jian; Wang, Xiuming; Chen, Ruimin; Li, Niu.
Afiliación
  • Tang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Wei M; Department of Pediatrics, Zibo Central Hospital, Zibo, Shandong Province, China.
  • Li X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Chen H; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Qin Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
  • Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China; Shanghai Clinical Research Center for R
  • Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Chen R; Department of Endocrinology, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian Province, China. Electronic address: chenruimin321@163.com.
  • Li N; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China; Shanghai Clinical Research Center for R
Clin Chim Acta ; 537: 38-45, 2022 Dec 01.
Article en En | MEDLINE | ID: mdl-36257379

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis II / Iduronato Sulfatasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Clin Chim Acta Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis II / Iduronato Sulfatasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Clin Chim Acta Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos