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
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
Jurecka A et al.
Neuropediatrics, 2014
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
Jurecka A et al.
European Journal of Pediatrics, 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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