Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report

This case highlights the importance of early diagnosis and intervention in neonatal-onset OTCD. Timely application of continuous blood purification (CBP) followed by liver transplantation resulted in significant improvements in both metabolic control and neurodevelopment.

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Publication Details

Journal
Translational Pediatrics
Published
2025-10-01
DOI
https://doi.org/10.21037/tp-2025-436
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report

Xiaolu Ma, X. Ju, Ziming Zhang, Tian Xie et al.
Translational Pediatrics
Metabolism and Genetic Disorders
article

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report

Xiaolu Ma, X. Ju, Ziming Zhang, Tian Xie, Zhigang Gao, Zheng Chen, Liping Shi, Dandan Pan
article en

Abstract

This case highlights the importance of early diagnosis and intervention in neonatal-onset OTCD. Timely application of continuous blood purification (CBP) followed by liver transplantation resulted in significant improvements in both metabolic control and neurodevelopment.

Translational PediatricsVol. 14(10)
Children's Hospital of Zhejiang University (CN), Zhejiang Lab (CN)
Openalex Percentile: Top 64%
Metabolism and Genetic Disorders
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