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Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency

  • Published:2022-02 Issue: Volume:526 Page:55-61
  • ISSN:0009-8981
  • Container-title:Clinica Chimica Acta
  • language:en
  • Short-container-title:Clinica Chimica Acta

Author:

Choi Yunha,Oh Arum,Lee Yena,Kim Gu-Hwan,Choi Jin-Ho,Yoo Han-Wook,Lee Beom Hee

Funder

National Research Foundation of Korea

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference34 articles.

1. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency;McReynolds;Am. J. Hum. Genet.,1981

2. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations;Häberle;Hum. Mutat.,2011

3. Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland;Nettesheim;Orphanet J. Rare Dis.,2017

4. The incidence of urea cycle disorders;Summar;Mol. Genet. Metab.,2013

5. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing;Zhang;J. Clin. Lab. Anal.,2018

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