Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference45 articles.
1. Carbamoyl phosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients;Ali;Eur. J. Pediatr.,2016
2. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency;Aoshima;Hum. Hered.,2001
3. Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis;Aoshima;Prenat. Diagn.,2001
4. A case report of carbamoyl phosphate synthetase I deficiency;Chen;Jilin Med. (in Chinese),2013
5. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy;Chen;J. Clin. Lab. Anal.,2018
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2. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review;BMC Medical Genomics;2023-06-26
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