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Bharath Nair Suresh Kumar Bindu1, Radhika Dhamija2, Asmaa Ferdjallah3

  • 1Kasturba Medical College, Karnataka, Manipal, India.

BMJ case reports
|January 7, 2026
PubMed
概括

谷氨合成酶 (GSS) 缺乏,一种罕见的代谢障碍,是GSS基因突变的结果. 这会损害谷氨的产生,削弱细胞抗氧化防御,增加对氧化应激的敏感性.