Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Reference35 articles.
1. Enzymes of arginine and urea synthesis;Ratner,1976
2. The human argininosuccinate synthetase locus and citrullinemia;Beaudet;Adv Hum Genet,1986
3. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia;Häberle;Hum Genet,2002
4. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1);Häberle;Mol Genet Metab,2003
5. Suggested guidelines for the diagnosis and management of urea cycle disorders;Häberle;Orphanet J Rare Dis,2012
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3. Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series;International Journal of Reproductive BioMedicine (IJRM);2023-01-09
4. Regulation of urea cycle by reversible high stoichiometry lysine succinylation;2022-06-26
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