Associated Papers
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
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 2018
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
Mao X et al.
Scientific Reports, 2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Coll M et al.
Plos One, 2017
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR et al.
Molecular Genetics and Metabolism Reports, 2016
27504266 (PubMed )
Supplement: mmc1.pdf
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Baresova V et al.
Human Molecular Genetics, 2012
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
Zikanova M et al.
Human Mutation, 2010
Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.
Crifò C et al.
Biofactors (oxford, England), 2005
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V et al.
Human Molecular Genetics, 2000
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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