@article{202404.0360, doi = {10.20944/preprints202404.0360.v1}, url = {https://doi.org/10.20944/preprints202404.0360.v1}, year = 2024, month = {April}, publisher = {Preprints}, author = {Miroslava Didiasova and Samuele Cesaro and Simon Feldhoff and Ilaria Bettin and Nana Tiegel and Vera Füssgen and Mariarita Bertoldi and Ritva Tikkanen}, title = {Functional Characterization of a Spectrum of Genetic Variants in a Family With Succinic Semialdehyde Dehydrogenase Deficiency}, journal = {Preprints} }