Associated Papers
Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Bazo A et al.
International Journal of Molecular Sciences, 2022
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C et al.
Human Mutation, 2017
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Chandler RJ et al.
Gene Therapy, 2013
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Gao HZ et al.
Human Mutation, 2003
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