与相关的神经发育障碍,用饮食治疗:基于案例的综述
Raffaele Falsaperla1,2,3, Vincenzo Sortino2, Marina Antonietta Schinocca4
1Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, University of Catania, 95123 Catania, Italy.
Genes
|July 27, 2024
概括
普拉综合症是一种遗传性疾病,可以呈现出新的症状,如和发作. 性饮食 (KD) 在治疗年轻患者的这些症状方面表现出有效性.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 代谢疗法 代谢疗法
背景情况:
- 普拉综合征是一种罕见的先天性疾病,由普拉基因的新突变引起.
- PURA基因编码了一个关键的DNA/RNA结合蛋白,参与基因调节.
- 经典的PURA缺乏症呈现出发育迟缓和神经问题.
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