Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram
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Adenylosuccinate lyase (ADSL) deficiency (MIM# 103050) is a rare inherited disorder of purine metabolism characterized by neurodevelopmental impairment, epilepsy, and accumulation of succinylpurines. The clinical spectrum ranges from severe prenatal manifestat... ...
