Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Margutti, Ana Vitoria Barban, Silva, Wilson Araújo, 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
Published in Orphanet journal of rare diseases (01.11.2020)
Published in Orphanet journal of rare diseases (01.11.2020)
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Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State
Mota, Laís Ribeiro, de Melo Filho, Valmir Machado, de Castro, Lorena Lemos, Garcia, Daniel Fantozzi, Terse-Ramos, Regina, Toralles, Maria Betânia Pereira, de Lima, Renata Lúcia Leite Ferreira, Souza, Edna Lúcia
Published in Molecular biology reports (01.12.2018)
Published in Molecular biology reports (01.12.2018)
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Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine
Garcia, Daniel Fantozzi, Oliveira, Ticiano G, Molfetta, Greice A, Garcia, Luiz V, Ferreira, Cristiane A, Marques, Adriana A, Silva, Jr, Wilson Araujo
Published in Genetics and molecular biology (01.01.2011)
Published in Genetics and molecular biology (01.01.2011)
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Journal Article
Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Amorim, Tatiana, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, de Santana Santos, Emerson, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tonon, Tássia, Sperb-Ludwig, Fernanda, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo Junior
Published in Orphanet Journal of Rare Diseases (20.10.2020)
Published in Orphanet Journal of Rare Diseases (20.10.2020)
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