Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity - Margutti, Ana Vitoria Barban; Silva Junior, Wilson Araújo da; Garcia, Daniel Fantozzi; Molfetta, Greice Andreotti de; Marques, Adriana Aparecida; Amorim, Tatiana; Prazeres, Vânia Mesquita Gadelha; Silva, Raquel Tavares Boy da; Miura, Irene Kazue; Seda Neto, Joao; Santos, Emerson de Santana; Santos, Mara Lúcia Schmitz Ferreira; et al. (Orphanet Journal of Rare Diseases, 2020)