Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China

Abstract Background Urea cycle disorders (UCDs) are a group of rare genetic metabolic disorders characterized by hyperammonemia, which can lead to neurological damage, systemic complications, and even death. Understanding UCDs’ clinical features and progression in the Chinese population will fill re...

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Bibliographic Details
Main Authors: Ziyan Cen, Pingping Ge, Yuhe Chen, Ting Zhang, Peiyao Wang, Lingwei Hu, Benqing Wu, Xinwen Huang
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03985-w
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