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Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.
Ma, Kai; Zhang, Kaihui; Chen, Defang; Wang, Chuan; Abdalla, Mohnad; Zhang, Haozheng; Tian, Rujin; Liu, Yang; Song, Li; Zhang, Xinyi; Liu, Fangfang; Liu, Guohua; Wang, Dong.
Affiliation
  • Ma K; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Zhang K; Department of neurology, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Chen D; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Wang C; The Office of operation management committee, Central Hospital Affiliated to Shandong First Medical University, Jiefang road NO. 105, Jinan, SD 250022, PR China.
  • Abdalla M; Science, Education and Foreign Affairs Section, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Zhang H; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Tian R; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Song L; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Zhang X; Ophthalmology department, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Liu F; Pediatric Hematology and Oncology, Children's Hospital Affiliated to Shandong University, Jingshi road NO. 23976, Jinan, SD 250022, PR China.
  • Liu G; Intensive Care Unit, The Second People's Hospital of Shandong Province, Duanxing west road NO. 4, Jinan, SD 250022, PR China.
  • Wang D; Department of Ultrasound, Central Hospital Affiliated to Shandong First Medical University, Jiefang road NO. 105, Jinan, SD 250022, PR China.
Hum Mol Genet ; 33(13): 1120-1130, 2024 Jun 21.
Article in En | MEDLINE | ID: mdl-38520738
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Full text: 1 Database: MEDLINE Main subject: Spinal Muscular Atrophies of Childhood / RNA Splicing / Survival of Motor Neuron 2 Protein / Mutation Limits: Female / Humans / Infant / Newborn Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2024 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Spinal Muscular Atrophies of Childhood / RNA Splicing / Survival of Motor Neuron 2 Protein / Mutation Limits: Female / Humans / Infant / Newborn Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2024 Type: Article