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
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.
Zhao M et al.
Biomed Research International, 2019
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
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
Rüegger CM et al.
Journal of Inherited Metabolic Disease, 2014
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.
Hu L et al.
The Journal of Biological Chemistry, 2013
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
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
Mercimek-Mahmutoglu S et al.
Molecular Genetics and Metabolism, 2010
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