Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
巴西患者的枫糖尿症：变异和临床表型异质性
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01590-7
Margutti, Ana Vitoria Barban; Silva, Wilson Araújo Jr; Garcia, Daniel Fantozzi; de Molfetta, Greice Andreotti; Marques, Adriana Aparecida; Amorim, Tatiana; Prazeres, Vânia Mesquita Gadelha; Boy da Silva, Raquel Tavares; Miura, Irene Kazue; Seda Neto, João; Santos, Emerson de Santana; Santos, Mara Lúcia Schmitz Ferreira; Lourenço, Charles Marques; Tonon, Tássia; Sperb-Ludwig, Fernanda; de Souza, Carolina Fischinger Moura; Schwartz, Ida Vanessa Döederlein; Camelo, José Simon Jr
