@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} }