Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado em 2012

Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: Need for agents to target antibod...

Por Banugaria, Suhrad G., Patel, Trusha T., Mackey, Joanne, Das, Stuti, Amalfitano, Andrea, Rosenberg, Amy S., Charrow, Joel, Chen, Y.-T., Kishnani, Priya S.
Publicado em 2012

Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment

Por Weinreb, Neal J., Goldblatt, Jack, Villalobos, Jacobo, Charrow, Joel, Cole, J. Alexander, Kerstenetzky, Marcelo, vom Dahl, Stephan, Hollak, Carla
Publicado em 2013

Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy

Por Warnock, David G, Thomas, Christie P, Vujkovac, Bojan, Campbell, Ruth C, Charrow, Joel, Laney, Dawn A, Jackson, Leslie L, Wilcox, William R, Wanner, Christoph
Publicado no J Med Genet (2015)

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1

Por Grabowski, Gregory A., Kacena, Katherine, Cole, J. Alexander, Hollak, Carla E. M., Zhang, Lin, Yee, John, Mistry, Pramod K., Zimran, Ari, Charrow, Joel, vom Dahl, Stephan
Publicado em 2009

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Por Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R
Publicado no J Med Genet (2015)

Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy...

Por Banugaria, Suhrad G., Prater, Sean N., Patel, Trusha T., DeArmey, Stephanie M., Milleson, Christie, Sheets, Kathryn B., Bali, Deeksha S., Rehder, Catherine W., Raiman, Julian A. J., Wang, Raymond A., Labarthe, Francois, Charrow, Joel, Harmatz, Paul, Chakraborty, Pranesh, Rosenberg, Amy S., Kishnani, Priya S.
Publicado em 2013

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

Por Ortiz, Alberto, Abiose, Ademola, Bichet, Daniel G, Cabrera, Gustavo, Charrow, Joel, Germain, Dominique P, Hopkin, Robert J, Jovanovic, Ana, Linhart, Aleš, Maruti, Sonia S, Mauer, Michael, Oliveira, João P, Patel, Manesh R, Politei, Juan, Waldek, Stephen, Wanner, Christoph, Yoo, Han-Wook, Warnock, David G
Publicado no J Med Genet (2016)

Visual outcomes in children with neurofibromatosis type 1–associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis

Por Fisher, Michael J., Loguidice, Michael, Gutmann, David H., Listernick, Robert, Ferner, Rosalie E., Ullrich, Nicole J., Packer, Roger J., Tabori, Uri, Hoffman, Robert O., Ardern-Holmes, Simone L., Hummel, Trent R., Hargrave, Darren R., Bouffet, Eric, Charrow, Joel, Bilaniuk, Larissa T., Balcer, Laura J., Liu, Grant T.
Publicado em 2012

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase

Por Zimran, Ari, Pastores, Gregory M., Tylki-Szymanska, Anna, Hughes, Derralynn A., Elstein, Deborah, Mardach, Rebecca, Eng, Christine, Smith, Laurie, Heisel-Kurth, Margaret, Charrow, Joel, Harmatz, Paul, Fernhoff, Paul, Rhead, William, Longo, Nicola, Giraldo, Pilar, Ruiz, Juan A., Zahrieh, David, Crombez, Eric, Grabowski, Gregory A.
Publicado em 2013

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Myung, Clara, Beirnes, Kimberly, Choi, Kunho, Asakura, Yumi, Bokenkamp, Arend, Bonneau, Dominique, Brugnara, Milena, Charrow, Joel, Colin, Estelle, Davis, Amira, Deschenes, Georges, Gentile, Mattia, Giordano, Mario, Gormley, Andrew K., Govender, Rajeshree, Joseph, Mark, Keller, Kory, Lerut, Evelyne, Levtchenko, Elena, Massella, Laura, Mayfield, Christy, Najafian, Behzad, Parham, David, Spranger, Jurgen, Stenzel, Peter, Yis, Uluc, Yu, Zhongxin, Zonana, Jonathan, Hendson, Glenda, Boerkoel, Cornelius F.
Publicado no Orphanet J Rare Dis (2016)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Publicado em 2012-09-01

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado em 2012

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Por Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Publicado no Am J Hum Genet (2015)