Associated Papers
Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.
Borovikov A et al.
Frontiers in Genetics, 2025
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G et al.
Epilepsia Open, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
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