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Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram

Authors: Ružica Kravljanac, Marie Zikanova, Iva Milačić et al.

Publication: Molecular Genetics and Metabolism

Published: Sep 1, 2026

Source: Crossref

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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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