@article{laróvere_fairbanks_jinnah_guelbert_escuredo_becerra_kremer_2021, title={Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients}, volume={9}, ISSN={2326-4594}, url={https://doi.org/10.1590/2326-4594-JIEMS-2020-0027}, DOI={10.1590/2326-4594-JIEMS-2020-0027}, journal={Journal of Inborn Errors of Metabolism and Screening}, publisher={Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)}, author={Laróvere, Laura E. and Fairbanks, Lynette D. and Jinnah, H. A. and Guelbert, Norberto B. and Escuredo, Emilia and Becerra, Adriana and Kremer, Raquel Dodelson de}, year={2021}, pages={e20200027} }