Two novelCPS1mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy-Reference-Cited by-同舟云学术

Two novelCPS1mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

Published:2018-01-04 Issue:5 Volume:32 Page:e22375
ISSN:0887-8013
Container-title:Journal of Clinical Laboratory Analysis
language:en
Short-container-title:J Clin Lab Anal

Author:

Chen Xihui¹²^ORCID,Yuan Lijuan¹²³,Sun Mao¹²,Liu Qingbo¹²,Wu Yuanming¹²

Affiliation:

1. Department of Biochemistry and Molecular Biology; Fourth Military Medical University; Xi'an China

2. Center for DNA Typing; Fourth Military Medical University; Xi'an China

3. Department of General Surgery; Tangdu Hospital; Fourth Military Medical Universiy; Xi'an China

Funder

Key Industrial Chain Project in Shaanxi

Key Project of the Army Logistics Research

National Foundation of Natural Science of China

Publisher

Wiley

Subject

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

Reference26 articles.

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2. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency;Rokicki;Clin Chim Acta,2017

3. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing;Zhang;J Clin Lab Anal,2017

4. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations;Haberle;Hum Mutat,2011

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

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1. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency;BMC Pediatrics;2024-08-22

2. Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening;Journal of Zhejiang University (Medical Sciences);2023-12-01

3. Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency;Frontiers in Neuroscience;2022-10-21

4. A hypomyelinating leukodystrophy in German Shepherd dogs;Journal of Veterinary Internal Medicine;2021-03-18

5. Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency;EUR REV MED PHARMACO;2020