Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affil...
              
        Détails bibliographiques
                  | Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 4 vom: 25. März, Seite 368-373
  | 
                  | Auteur principal: | 
      
        Song, P P
      (Auteur) | 
                  | Autres auteurs: | 
      
        Zhang, X L, 
      
        Li, X L, 
      
        Xu, D, 
      
        Wang, J L, 
      
        Chu, M M, 
      
        Wang, M Y, 
      
        Jia, T M, 
      
        Du, K X, 
      
        Dong, Y | 
                  | Format: |       Article en ligne
   | 
                  | Langue: | Chinese | 
                  | Publié: | 
            
            2024
        
  | 
                  | Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics
  | 
                  | Sujets: | English Abstract
            Journal Article
            Aspartate-Ammonia Ligase
            EC 6.3.1.1 |