Associated Papers
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2025
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
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
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
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
Requirement of argininosuccinate lyase for systemic nitric oxide production.
Erez A et al.
Nature Medicine, 2011
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations.
Trevisson E et al.
The Journal of Biological Chemistry, 2009
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
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Kleijer WJ et al.
Journal of Inherited Metabolic Disease, 2002
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
Linnebank M et al.
Journal of Inherited Metabolic Disease, 2000
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