Search Results - "Suelen Porto Basgalupp"

Elevated holo‐transcobalamin in Gaucher disease type II: A case report by Basgalupp, Suelen Porto, Donis, Karina Carvalho, Siebert, Marina, e Vairo, Filippo Pinto, Artigalas, Osvaldo, Camargo Pinto, Louise L., Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa D.

“…Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β‐glucocerebrosidase. Based on the presence and severity of…”
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Assessment of cellular cobalamin metabolism in Gaucher disease by Basgalupp, Suelen Porto, Siebert, Marina, Ferreira, Charles, Behringer, Sidney, Spiekerkoetter, Ute, Hannibal, Luciana, Schwartz, Ida Vanessa Doederlein

“…Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely,…”
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GBA1 variants in Brazilian Gaucher disease patients by Basgalupp, Suelen Porto, Altmann, Vivian, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein, Siebert, Marina, Cravo, Renata, Ribeiro, Erlane M., dos Santos, Augusto C., de Camargo Pinto, Louise L., Militão, Carolina C., Andrade, Luiz Fernando

“…Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of…”
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Liver involvement in patients with Gaucher disease types I and III by Starosta, Rodrigo Tzovenos, Vairo, Filippo Pinto e, Dornelles, Alícia Dorneles, Basgalupp, Suélen Porto, Siebert, Marina, Pedroso, Maria Lúcia Alves, Cerski, Carlos Thadeu Schmidt, Álvares-da-Silva, Mário Reis, Schwartz, Ida Vanessa Doederlein

“…Gaucher disease (GD) is a multisystemic disease. Liver involvement in GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular…”
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Innovating the fight against syphilis: SIM Project by Gerbase, Antonio, Oliveira, Vanessa Martins de, Basgalupp, Suelen Porto, Dornelles, Thayane Martins, Brito, Emerson Silveira de, Pretto, Michele, Pedrotti, Luana, Wendland, Eliana Márcia

“…Introduction: Syphilis is a major public health problem. Its incidence has increased in Brazil, particularly in the Southern Region. New tools are available,…”
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Investigation of paternity with alleged father deceased or missing: Analysis of success at the end of the report by Basgalupp, Suelen Porto, Rodenbusch, Rodrigo, Schumacher, Simone, Gastaldo, André Zoratto, Santos Silva, Deborah Soares Bispo, Alho, Clarice Sampaio

“…Abstract In this work we present a retrospective study of 858 cases of paternity investigation performed in Rio Grande do Sul, Southern Brazil, from 2007 to…”
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Innovating the fight against syphilis by Antonio Gerbase, Vanessa Martins de Oliveira, Suelen Porto Basgalupp, Thayane Martins Dornelles, Michelle Pretto, Luana Pedrotti, Emerson Silveira de Brito, Eliana Márcia Wendland

“…Introduction: Syphilis is a major public health problem. Its incidence has increased in Brazil, particularly in the Southern Region. New tools are available,…”
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