Search Results - "Souza, Carolina Fishinger Moura de"

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients by Sperb-Ludwig, Fernanda, Pinheiro, Franciele Cabral, Bettio Soares, Malu, Nalin, Tatiele, Ribeiro, Erlane Marques, Steiner, Carlos Eduardo, Ribeiro Valadares, Eugênia, Porta, Gilda, Fishinger Moura de Souza, Carolina, Schwartz, Ida Vanessa Doederlein

“…Background Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver…”
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Emerging drugs for the treatment of mucopolysaccharidoses by Giugliani, Roberto, Federhen, Andressa, Vairo, Filippo, Vanzella, Cláudia, Pasqualim, Gabriela, da Silva, Letícia Machado Rosa, Giugliani, Luciana, de Boer, Ana Paula Kurz, de Souza, Carolina Fishinger Moura, Matte, Ursula, Baldo, Guilherme

“…Despite being reported for the first time almost one century ago, only in the last few decades effective have treatments become available for the…”
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Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts by Giugliani, Roberto, Federhen, Andressa, Muñoz Rojas, Maria Verónica, Vieira, Taiane Alves, Artigalás, Osvaldo, Pinto, Louise Lapagesse Carmargo, Azevedo, Ana Cecília, Acosta, Angelina Xavier, Bomfim, Carmem, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Souza, Denize Bomfim, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia Ribeiro, Guarany, Fábio, De Lucca, Gisele Rosone, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão, Fraga, José Carlos, Góes, José Eduardo, Cabral, José Maria, Simeonato, José, Llerena, Jr, Juan Clinton, Jardim, Laura Bannach, Giuliani, Liane de Rosso, Silva, Luiz Carlos Santana da, Santos, Mara, Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina Fishinger Moura de, Alcântara, Flavio F, Avilla, Sylvio Gilberto A, Fagondes, Simone, Martins, Ana Maria

“…Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG)…”
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Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros by Giugliani, Roberto, Federhen, Andressa, Muñoz Rojas, Maria Verónica, Vieira, Taiane Alves, Artigalás, Osvaldo, Pinto, Louise Lapagesse Carmargo, Azevedo, Ana Cecília, Acosta, Angelina Xavier, Bomfim, Carmem, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Souza, Denize Bomfim, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia Ribeiro, Guarany, Fábio, De Lucca, Gisele Rosone, Pimentel, Helena, Souza, Isabel Neves de, Corrêa Neto, Jordão, Fraga, José Carlos, Góes, José Eduardo, Cabral, José Maria, Simeonato, José, Llerena Jr, Juan Clinton, Jardim, Laura Bannach, Giuliani, Liane de Rosso, Silva, Luiz Carlos Santana da, Santos, Mara, Moreira, Maria Ângela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina Fishinger Moura de, Alcântara, Flavio F, Avilla, Sylvio Gilberto A, Fagondes, Simone, Martins, Ana Maria

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