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Updated: May 5, 2026

Biochemical Measurement of Neonatal Hypoxia
13:13

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Published on: August 24, 2011

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明显的新生儿高氨血和肝合成功能障碍:严重的MEGDHEL综合征病例报告

Ina Kirchberg1, Elke Lainka2, Andrea Gangfuß3

  • 1Department of Pediatric Intensive Care, Children's Hospital, University of Duisburg-Essen, Essen, Germany.

Frontiers in pediatrics
|March 6, 2024
PubMed
概括

梅格德尔综合征是一种罕见的代谢障碍,由SERAC1基因变异引起,在婴儿中表现为严重的肝衰竭. 早期诊断和支持性护理对于受影响的家庭至关重要,尽管缺乏治疗方法.

关键词:
梅格德尔综合征是什么意思这就是SERAC1的原因.过高氨血的情况.乳酸性酸性消化症 乳酸性酸性消化症肝功能衰竭 肝功能衰竭 肝功能衰竭神经代谢障碍是一种神经代谢障碍.

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