Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram.
- DOI
- 10.1016/j.ymgme.2026.110192
- Published
- 2026 Sep-Oct
- Container
- Molecular genetics and metabolism
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ymgme.2026.110192,
title = {Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram.},
author = {Kravljanac R and Zikanova M and Milačić I and Tadić BV and Popović S and Oparnica V and Skopova V and Forejtova A and Baresova V},
year = {2026},
journal = {Molecular genetics and metabolism},
doi = {10.1016/j.ymgme.2026.110192},
url = {https://doi.org/10.1016/j.ymgme.2026.110192}
}RIS
TY - JOUR TI - Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram. AU - Kravljanac R AU - Zikanova M AU - Milačić I AU - Tadić BV AU - Popović S AU - Oparnica V AU - Skopova V AU - Forejtova A AU - Baresova V PY - 2026 JO - Molecular genetics and metabolism DO - 10.1016/j.ymgme.2026.110192 UR - https://doi.org/10.1016/j.ymgme.2026.110192 ER -
APA
R, K., M, Z., I, M., BV, T., S, P., V, O., V, S., A, F., & V, B. (2026). Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiram.. Molecular genetics and metabolism. https://doi.org/10.1016/j.ymgme.2026.110192
Source records
- pubmed · retrieved 2026-09-25T15:20:59.648Z