Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations by Varela, Patrícia, Carvalho, Gerson, Martin, Renan Paulo, Pesquero, João Bosco

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Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3 by da Silva Carvalho, Gerson, Saute, Jonas Alex Morales, Haas, Clarissa Branco, Torrez, Vitor Rocco, Brochier, Andressa Wigner, Souza, Gabriele Nunes, Furtado, Gabriel Vasata, Gheno, Tailise, Russo, Aline, Monte, Thais Lampert, Schumacher-Schuh, Artur, D’Avila, Rui, Donis, Karina Carvalho, Castilhos, Raphael Machado, Souza, Diogo Onofre, Saraiva-Pereira, Maria Luiza, Torman, Vanessa Leotti, Camey, Suzi, Portela, Luis Valmor, Jardim, Laura Bannach

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Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients by Basgalupp, Suelen P., Siebert, Marina, Vairo, Filippo Pinto e, Chami, Anisse Marques, Pinto, Louise Lapagesse de Camargo, Carvalho, Gerson da S., Schwartz, Ida Vanessa D.

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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency by Kubaski, Francyne, Burlina, Alberto, Pereira, Danilo, Silva, Camilo, Herbst, Zackary M, Trapp, Franciele B, Michelin-Tirelli, Kristiane, Lopes, Franciele F, Burin, Maira G, Brusius-Facchin, Ana Carolina, Netto, Alice B O, Poletto, Edina, Bernardes, Tamires M, Carvalho, Gerson S, Sorte, Ney B, Ferreira, Fernanda N, Perin, Nilza, Clivati, Marta R, de Santana, Marnie T S, Lobos, Sandra F G, Leão, Emilia K E A, Coutinho, Marcelo P, Pinos, Paola V, Santos, Maria L S F, Penatti, Debora A, Lourenço, Charles M, Polo, Giulia, Giugliani, Roberto

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Dissipated energy in tapping mode by the atomic force microscope by Lopes, Gerson Andesron de Carvalho, Fonseca Filho, Henrique Duarte da

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Diagnosis and Management of Classical Homocystinuria in Brazil by Poloni Soraia, Hoss, Giovana W, Sperb-Ludwig Fernanda, Borsatto Taciane, Doriqui Maria Juliana R, KEA, Leão Emília, Boa-Sorte Ney, Lourenço, Charles M, Kim, Chong A, de Souza Carolina F M, Rocha Helio, Ribeiro, Marcia, Steiner, Carlos E, Moreno, Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, D’Almeida Vânia, Santana-da-Silva, Luiz C, Blom, Henk J, Schwartz Ida V D

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Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial by Diaz-Manera, Jordi, Kishnani, Priya S, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Berger, Kenneth I, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Choi, Young Chul, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Deegan, Patrick, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Komaki, Hirofumi, Longo, Nicola, Malinova, Vera, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Mongini, Tiziana Enrica, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tarnopolsky, Mark, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Billy, Jenny, Boschi, Silvia, Carrera Garcia, Laura, Chase, Lauren, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Pasnoor, Mamatha, Questienne, Claire, Ramos Lopes, Margarida, Riedl, Michaela, Salort-Campana, Emmanuelle, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien

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Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial by Kishnani, Priya S., Díaz-Manera, Jordi, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T., Clemens, Paula R., Day, John W., Illarioshkin, Sergey, Roberts, Mark E., Attarian, Shahram, Carvalho, Gerson, Erdem-Özdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M., Schoser, Benedikt

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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency by Kubaski, Francyne, Pereira, Danilo, Herbst, Zackary M., Trapp, Franciele B., Michelin-Tirelli, Kristiane, Bernardes, Tamires M., Carvalho, Gerson S., Sorte, Ney B., Machado, Fernanda N.F., Perin, Nilza, Giugliani, Roberto

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The avalglucosidase alfa phase 3 COMET trial in late-onset Pompe disease patients: Efficacy and safety results after 97 weeks by Kishnani, Priya, Díaz-Manera, Jordi, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T., Berger, Kenneth I., Clemens, Paula R., Chien, Yin-Hsiu, Day, John W., Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Carvalho, Gerson, Choi, Young-Chul, Erdem-Özdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M., Schoser, Benedikt

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Flavonoids inhibit angiogenic cytokine production by human glioma cells by Freitas, Sandra, Costa, Silvia, Azevedo, Camila, Carvalho, Gerson, Freire, Songeli, Barbosa, Pedro, Velozo, Eudes, Schaer, Robert, Tardy, Marcienne, Meyer, Roberto, Nascimento, Ivana

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2595 Efficacy and safety of avalglucosidase Alfa in participants with late-onset pompe disease after 145 weeks’ treatment: phase 3 COMET trial by Henderson, Robert D, Schoser, Benedikt, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, Ploeg, Ans T van der, Clemens, Paula R, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Carvalho, Gerson, Erdem-Özdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Díaz-Manera, Jordi, Dimachkie, Mazen M

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Raman, crystallographic and chemical characterization of roméite-group minerals by de Carvalho Lopes, Gerson Anderson, Atencio, Daniel, de Andrade, Marcelo Barbosa

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2285 Efficacy and safety of avalglucosidase alfa in participants with late-onset pompe disease after 97 weeks of treatment during the COMET trial by Henderson, Robert, Kishnani, Priya S, Díaz-Manera, Jordi, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, Ploeg, Ans T van der, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Carvalho, Gerson, Choi, Young Chul, Erdem-Özdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen, Schoser, Benedikt

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CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients by Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.

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Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients by Poloni, Soraia, Hoss, Giovana W., Sperb-Ludwig, Fernanda, Borsatto, Taciane, Doriqui, Maria Juliana R., Leão, Emília K.E.A, Boa-Sorte, Ney, Lourenço, Charles M., Kim, Chong A., de Souza, Carolina F. M., Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., D’Almeida, Vânia, Santana-da-Silva, Luiz C., Blom, Henk J., Schwartz, Ida V. D.

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Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients by Poloni, Soraia, Hoss, Giovana W., Sperb-Ludwig, Fernanda, Borsatto, Taciane, Doriqui, Maria Juliana R., Leão, Emília K.E.A, Boa-Sorte, Ney, Lourenço, Charles M., Kim, Chong A., Souza, Carolina F. M. de, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., D’Almeida, Vânia, Santana-da-Silva, Luiz C., Blom, Henk J., Schwartz, Ida V. D.

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Human Bocavirus in Very Young Infants Hospitalized with Acute Respiratory Infection in Northeast Brazil by Souza, Edna Lucia, Ramos, João Gabriel, Proença-Módena, José Luiz, Diniz, Andréa, Carvalho, Gerson, Ciuffo, Isolina, Araújo-Neto, César A., Andrade, Sandra Cristina, Souza, Leda Solano, Arruda, Eurico, Silva, Luciana

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Dissipated energy in tapping mode by the atomic force microscope/Energia dissipada em modo tapping pelo microscopio de forca atomica by Lopes, Gerson Anderson de Carvalho, Filho, Henrique Duarte da Fonseca

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Presence of Serum Ferritin before and after Bariatric Surgery: Analysis in Dentate and Edentulous Patients by Foratori, Junior, Gerson Aparecido, Andrade, Francisco Juliherme Pires de, Mosquim, Victor, Sales Peres, Matheus de Carvalho, Ceneviva, Reginaldo, Chaim, Elinton Adami, Sales Peres, Silvia Helena de Carvalho

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