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
Cysteamine revisited: repair of arginine to cysteine mutations.
Gallego-Villar L et al.
Journal of Inherited Metabolic Disease, 2017
Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.
Inauen C et al.
Molecular Diagnosis & Therapy, 2016
Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
Balmer C et al.
Human Mutation, 2014
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