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Updated: Jun 24, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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过高ornithinemia-hyperammonemia-homocitrullinuria:一个罕见的神经代谢障碍在两个兄弟姐妹

Diane Rizkallah1, Rose T Daher2, Laith Haddad3

  • 1Faculty of Medicine, American University of Beirut, Beirut, Lebanon.

Metabolic brain disease
|June 4, 2024
PubMed
概括

尿素循环的罕见障碍,即高甲血症-高血症-homocitrullinuria综合征,即使在氨控制下,也会产生可变的神经结果. 这项研究确定了阿拉伯患者的创始突变,突出了诊断挑战和长期疾病进展.

关键词:
脑病变是一种脑病变.过高ornithinemia-hyperammonemia-homocitrullinuria 这两种情况都可能发生.神经代谢的神经代谢这种基因是SLC25A15基因.尿素循环的尿素周期

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