Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening
Author:
Publisher
China Science Publishing & Media Ltd.
Subject
General Medicine
Link
https://engine.scichina.com/doi/pdf/F585275B5D00420B9EC4B8C80D3708D7
Reference21 articles.
1. CHOI Y, LEE Y. Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency. Clin Chim Acta, 2022, 526: 55-61.
2. ALI E Z, KHALID M K, YUNUS Z M. Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. Eur J Pediatr, 2016, 175: 339-346.
3. ZHANG G, CHEN Y, JU H. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing. J Clin Lab Anal, 2018, 32:
4. CHEN X, YUAN L, SUN M. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. J Clin Lab Anal, 2018, 32:
5. SUMMAR M L, DOBBELAERE D, BRUSILOW S. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year,multicentre study of acute hyperammonaemic episodes. ActaPaediatr, 2008, 97: 1420-1425.
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