Associated Papers
Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.
Leuger L et al.
Jimd Reports, 2021
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Zielonka M et al.
Human Mutation, 2020
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.
Kim D et al.
Journal of Human Genetics, 2018
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
Journal of Inherited Metabolic Disease, 2015
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
Doimo M et al.
Journal of Inherited Metabolic Disease, 2012
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 (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.
Linnebank M et al.
Human Genetics, 2002
Select a paper to view details