葡萄糖载体1型缺陷综合征:表型,分子发现和阿根廷的性疗法实施

Marisa Laura Armeno1, Mario Massaro2, Julia Boccoli3

  • 1Cinme, Buenos Aires, Argentina.

概括

葡萄糖载体1型缺陷综合征 (Glut1DS) 是一种罕见的脑病变. 性饮食疗法 (KDT) 有效地管理Glut1DS症状,改善阿根廷患者的控制和神经发育结果.

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