Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing-Reference-Cited by-同舟云学术

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing

Published:2017-04-26 Issue:2 Volume:32 Page:e22241
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Zhang Guoqing¹,Chen Yulin²³,Ju Huiqun¹,Bei Fei¹,Li Jing¹,Wang Jian²,Sun Jianhua¹,Bu Jun¹^ORCID

Affiliation:

1. Department of Neonatology; Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

2. Department of Medical Genetics; Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

3. Institute of Pediatric Translational Medicine; Shanghai Children's Medical Center; Shanghai Jiaotong University School of Medicine; Shanghai China

Publisher

Wiley

Subject

Microbiology (medical),Biochemistry (medical),Medical Laboratory Technology,Clinical Biochemistry,Public Health, Environmental and Occupational Health,Hematology,Immunology and Allergy

Reference41 articles.

1. Untersuchungen über die Harnstoffbildung im Tierkörper;Krebs;Hoppe Seylers Z Physiol Chem,1932

2. Urea biosynthesis I. The urea cycle and relationships to the citric acid cycle;Shambaugh;Am J Clin Nutr,1977

3. Molecular genetic research into carbamoylphosphate synthetase I: molecular defects and linkage markers;Summar;Inher Metab Dis,1998

4. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function;Díez-Fernández;Mol Genet Metab,2014

5. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia;Haraguchi;Genet Med,1991

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