Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Diana Ruffato Resende CampanholiAna Vitoria Barban MarguttiWilson Araújo da Silva JuniorDaniel Fantozzi GarciaGreice Andreotti de MolfettaAdriana Aparecida MarquesIda Vanessa Döederlein SchwartzVeronica CornejoValerie HamiltonGabriela CastroFernanda Sperb-LudwigEster S BorgesJosé Simon CameloPublished in: Molecular genetics & genomic medicine (2021)
If MSUD is diagnosed earlier, with a newborn screening approach, it might be possible to establish genotype-phenotype relationships more efficiently.