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Updated: Jul 9, 2025

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purin 和 pyrimidine 代谢的先天性错误的神经表现

Marie-Cécile Nassogne1, Sandrine Marie2, Joseph P Dewulf3

  • 1Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
|December 6, 2023
PubMed
概括

purin 和 pyrimidine 代谢的先天性错误会导致神经问题. 通过遗传和生物化学测试进行早期诊断对于治疗这些罕见的,往往未被确诊的代谢障碍至关重要.

关键词:
代谢缺陷导致的代谢缺陷.神经学介绍 神经学介绍纯氨酸纯氨酸是一种纯氨酸.皮里米丁是什么 皮里米丁是什么

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