Associated Papers
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
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Human Mutation, 2020
Argininosuccinate lyase interacts with cyclin A2 in cytoplasm and modulates growth of liver tumor cells.
Hung YH et al.
Oncology Reports, 2017
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
Engel K et al.
Journal of Inherited Metabolic Disease, 2012
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
Trevisson E et al.
Human Mutation, 2007
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M et al.
Human Genetics, 2002
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