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Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: Functional characterization of a novel ADSL variant and exploratory treatment with disulfiram
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DOI：10.1016/j.ymgme.2026.110192.png)
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Abstract
En 中文
• Early autonomic dysfunction may precede epilepsy in ADSL deficiency. • Non-ictal apneic episodes expand phenotypic spectrum of ADSL deficiency. • Novel ADSL variant p.(Leu121Phe) is functionally pathogenic. • Disulfiram reduces SAICAr but alters upstream purine metabolites.
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