Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency-Reference-Cited by-同舟云学术

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Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency

Published:2024-08-22 Issue:1 Volume:24 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Dong Hui,Sang Tian,Ma Xue,Song Jinqing,Chen Zhehui,Zhang Huiting,Jin Ying,Li Mengqiu,Dong Dingding,Sun Liying,Zhu Zhijun,Zhang Yao,Yang Yanling

Funder

National Key Research and Development Program of China

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s12887-024-05005-5.pdf

Reference30 articles.

1. Nitzahn M, Lipshutz GS. CPS1: looking at an ancient enzyme in a modern light. Mol Genet Metab. 2020;131:289–98. https://doi.org/10.1016/j.ymgme.2020.10.003.

2. Lopes FF, Sitta A, de Moura Coelho D, Ribas GS, Faverzani JL, Dos Reis BG, et al. Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy. Int J Dev Neurosci. 2022;82:772–88. https://doi.org/10.1002/jdn.10229.

3. Ribas GS, Lopes FF, Deon M, Vargas CR. Hyperammonemia in inherited metabolic diseases. Cell Mol Neurobiol. 2022;42:2593–610. https://doi.org/10.1007/s10571-021-01156-6.

4. Isler J, Rüfenacht V, Gemperle C, Allegri G, Haberle J. Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing. JIMD Rep. 2020;52:28–34. https://doi.org/10.1002/jmd2.12091.

5. Nettesheim S, Kolker S, Karall D, Haberle J, Posset R, Hoffmann GF, et al. Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet J Rare Dis. 2017;12:111–8. https://doi.org/10.1186/s13023-017-0661-x.

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