Associated Papers
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
Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.
Jurecka A et al.
Journal of Child Neurology, 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
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
Jurecka A et al.
Molecular Genetics and Metabolism, 2008
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