Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome) by Poswar, Fabiano de Oliveira, Henriques Nehm, Johanna, Kubaski, Francyne, Poletto, Edina, Giugliani, Roberto

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Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations by Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.

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Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170] by Morrone, A., Tylee, K.L., Al-Sayed, M., Brusius-Facchin, A.C., Caciotti, A., Church, H.J., Coll, M.J., Davidson, K., Fietz, M.J., Gort, L., Hegde, M., Kubaski, F., Lacerda, L., Laranjeira, F., Leistner-Segal, S., Mooney, S., Pajares, S., Pollard, L., Ribeiro, I., Wang, R.Y., Miller, N.

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Impact of enzyme replacement therapy andhematopoietic stem cell transplantation inpatients with Morquio A syndrome by Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T

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Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays by Bender, Fernanda, Burin, Maira G., Tirelli, Kristiane M., Medeiros, Fernanda, Bitencourt, Fernanda Hendges de, Civallero, Gabriel, Kubaski, Francyne, Bravo, Heydy, Daher, Antoine, Carnier, Vanessa, Franco, José F. S., Giugliani, Roberto

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Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system by Vera, Luisa Natalia Pimentel, Schuh, Roselena Silvestri, Fachel, Flavia Nathielly Silveira, Poletto, Edina, Piovesan, Eduarda, Kubaski, Francyne, Couto, Eduarda, Brum, Bruna, Rodrigues, Graziella, Souza, Hallana, Giugliani, Roberto, Matte, Ursula, Baldo, Guilherme, Teixeira, Helder F.

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Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C by Kubaski, Francyne, Burlina, Alberto, Polo, Giulia, Pereira, Danilo, Herbst, Zackary M., Silva, Camilo, Trapp, Franciele B., Michelin-Tirelli, Kristiane, Lopes, Franciele F., Burin, Maira G., Brusius-Facchin, Ana Carolina, Netto, Alice B. O., Faqueti, Larissa, Iop, Gabrielle D., Poletto, Edina, Giugliani, Roberto

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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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Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified by Kubaski, Francyne, Miguel, Diego, Pereira, Danilo, Malaga, Diana R., Brusius-Facchin, Ana C., Trapp, Franciele B., de Mari, Jurema F., Burin, Maira G., Michelin-Tirelli, Kristiane, Meira, Joanna G.C., Leao, Emilia, Mason, Robert W., Tomatsu, Shunji, Giugliani, Roberto

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Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome by Tomatsu, Shunji, Sawamoto, Kazuki, Alméciga-Díaz, Carlos J, Shimada, Tsutomu, Bober, Michael B, Chinen, Yasutsugu, Yabe, Hiromasa, Montaño, Adriana M, Giugliani, Roberto, Kubaski, Francyne, Yasuda, Eriko, Rodríguez-López, Alexander, Espejo-Mojica, Angela J, Sánchez, Oscar F, Mason, Robert W, Barrera, Luis A, Mackenzie, William G, Orii, Tadao

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