Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial

por Kishnani, Priya S., Diaz-Manera, Jordi, Toscano, Antonio, Clemens, Paula R., Ladha, Shafeeq, Berger, Kenneth I., Kushlaf, Hani, Straub, Volker, Carvalho, Gerson, Mozaffar, Tahseen, Roberts, Mark, Attarian, Shahram, Chien, Yin-Hsiu, Choi, Young-Chul, Day, John W., Erdem-Ozdamar, Sevim, Illarioshkin, Sergey, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, van der Ploeg, Ans T., An Haack, Kristina, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M., Schoser, Benedikt
Publicado 2023

CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

por 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.
Publicado 2018

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency

por 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
Publicado 2022