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一个异常温和的生物-胺反应性基底性腺疾病病例

Gurnoor Lail1, Susan Blaser2, Michal Inbar-Feigenberg1

  • 1Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

Molecular genetics and metabolism reports
|December 6, 2023
PubMed
概括

生物胺反应性基底腺疾病 (BTBGD) 可能发生在老年儿童中,并呈现出各种神经症状. 早期诊断和用生物素和胺治疗对于管理这种可治疗的神经代谢障碍至关重要.

关键词:
生物素 - 胺 - 响应基底腺疾病 (BTBGD)代谢中的先天性错误 (IEM)脑白细胞病变 (Leukoencephalopathy) 是一种脑白细胞病变.神经遗传学 神经遗传学神经代谢的神经代谢

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