@ARTICLE{
author={Kravljanac Ruzica,Zikanova Marie,Milacic Iva,Vucetic-Tadic Biljana,Popovic Sofija,Oparnica Vladimir,Skopova Vaclava,Forejtova Alena,Baresova Veronika},
year={2026},
title={Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram},
journal={MOLECULAR GENETICS AND METABOLISM},
volume={149},
number={1-2},
pages={-},
document_type={Article},
}