Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry von Eng, C. M., Fletcher, J., Wilcox, W. R., Waldek, S., Scott, C. R., Sillence, D. O., Breunig, F., Charrow, J., Germain, D. P., Nicholls, K., Banikazemi, M.

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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders von Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G.A., McCracken, E., Conway, R., Enns, G.M., Starr, J., Wang, R., Abdenur, J.E., Sanchez-de-Toledo, J., Marsden, D.L.

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The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease von Charrow, J, Dulisse, B, Grabowski, GA, Weinreb, NJ

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat von Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael

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Late-onset optic pathway tumors in children with neurofibromatosis 1 von LISTERNICK, R, FERNER, R. E, PIERSALL, L, SHARIF, S, GUTMANN, D. H, CHARROW, J

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Dental Abnormalities in Schimke Immuno-osseous Dysplasia von Morimoto, M., Kérourédan, O., Gendronneau, M., Shuen, C., Baradaran-Heravi, A., Asakura, Y., Basiratnia, M., Bogdanović, R., Bonneau, D., Buck, A., Charrow, J., Cochat, P., DeHaai, K.A., Fenkçi, M.S., Frange, P., Fründ, S., Fryssira, H., Keller, K., Kirmani, S., Kobelka, C., Kohler, K., Lewis, D.B., Massella, L., McLeod, D.R., Milford, D.V., Nobili, F., Olney, A.H., Semerci, C.N., Stajić, N., Stein, A., Taque, S., Zonana, J., Lücke, T., Hendson, G., Bonnaure-Mallet, M., Boerkoel, C.F.

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

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Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease von GERMAIN, Dominique P, WALDEK, Stephen, WILCOX, William R, GUFFON, Nathalie, BANIKAZEMI, Maryam, BUSHINSKY, David A, CHARROW, Joel, DESNICK, Robert J, LEE, Philip, LOEW, Thomas, VEDDER, Anouk C, ABICHANDANI, Rekha

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Gaucher disease and cancer incidence: a study from the Gaucher Registry von Rosenbloom, Barry E., Weinreb, Neal J., Zimran, Ari, Kacena, Katherine A., Charrow, Joel, Ward, Elizabeth

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Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience von Pena, Loren, Angle, Brad, Burton, Barbara, Charrow, Joel

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Traitement à long terme par une enzymothérapie substitutive la vélaglucérase alfa chez des enfants atteints de la maladie de gaucher de type 1 von Pastores, G., Rhead, W., Charrow, J., Longo, L., Harmatz, P., Hangartnerd, T., Wang, N., Crombez, E., Smith, L.

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Effectiveness of Enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher registry von WEINREB, Neal J, CHARROW, Joel, ZIMRAN, Ari, ANDERSSON, Hans C, KAPLAN, Paige, KOLODNY, Edwin H, MISTRY, Pramod, PASTORES, Gregory, ROSENBLOOM, Barry E, SCOTT, C. Ronald, WAPPNER, Rebecca S

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Long-term agalsidase beta therapy is associated with improvements in pain and quality of life among patients with Fabry disease von Guffon, N, Germain, D.P, Waldek, S, Banikazemi, M, Bushinsky, D.A, Charrow, J, Lee, P, Loew, T, Vedder, A.C, Wilcox, W.R

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

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Knowledge and Attitudes Toward a Free Education and Ashkenazi Jewish Carrier Testing Program von Hegwer, G., Fairley, C., Charrow, J., Ormond, K. E.

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Individualization of long-term enzyme replacement therapy for Gaucher disease von Andersson, Hans C., Charrow, Joel, Kaplan, Paige, Mistry, Pramod, Pastores, Gregory M., Prakesh-Cheng, Ainu, Rosenbloom, Barry E., Scott, C Ronald, Wappner, Rebecca S., Weinreb, Neal J.

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Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal study von Listernick, Robert, Charrow, Joel, Greenwald, Mark, Mets, Marilyn

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Segmental neurofibromatosis in childhood von Listernick, Robert, Mancini, Anthony J., Charrow, Joel

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Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome von King, Allison, Listernick, Robert, Charrow, Joel, Piersall, Linda, Gutmann, David H.

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Guidance on the use of miglustat for treating patients with type 1 Gaucher disease von Weinreb, Neal J., Barranger, John A., Charrow, Joel, Grabowski, Gregory A., Mankin, Henry J., Mistry, Pramod

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