Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency

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...

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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