Search Results - "CHARROW, J"

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry by 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.

“…Summary The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare…”
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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders by 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.

“…Long-chain fatty acid oxidation disorders (LC-FAOD) can cause cardiac hypertrophy and cardiomyopathy, often presenting in infancy, typically leading to death…”
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The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease by Charrow, J, Dulisse, B, Grabowski, GA, Weinreb, NJ

“…The effect of enzyme replacement therapy (ERT) on bone crisis and bone pain was investigated in patients with Gaucher disease (GD) type 1 followed over 4…”
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Late-onset optic pathway tumors in children with neurofibromatosis 1 by LISTERNICK, R, FERNER, R. E, PIERSALL, L, SHARIF, S, GUTMANN, D. H, CHARROW, J

“…Identification of new optic pathway tumors (OPTs) and progression of pre-existing OPTs in children with neurofibromatosis 1 (NF1) have been reported…”
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Dental Abnormalities in Schimke Immuno-osseous Dysplasia by 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.

“…Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic…”
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Long-term agalsidase beta therapy is associated with improvements in pain and quality of life among patients with Fabry disease by 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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Knowledge and Attitudes Toward a Free Education and Ashkenazi Jewish Carrier Testing Program by Hegwer, G., Fairley, C., Charrow, J., Ormond, K. E.

“…Carrier testing is offered on the basis of Ashkenazi Jewish background in both the prenatal and preconception settings, with the goal of decreasing the…”
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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat by 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

“…Migalastat stabilizes mutant α-galactosidase in Fabry's disease, reducing globotriaosylceramide deposition. In this study, the percentage of patients with a…”
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Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease by 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

“…Fabry disease, an inherited deficiency of the lysosomal enzyme alpha-galactosidase A, causes progressive intralysosomal accumulation of globotriaosylceramide…”
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Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis by 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

“…Optic pathway gliomas (OPGs) occur in 15%-20% of children with neurofibromatosis type 1 (NF1); up to half become symptomatic. There is little information…”
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Psoriasis induced by losartan therapy: a case report and review of the literature by Lamba, Gurpreet, Palaniswamy, Chandrasekar, Singh, Tarunjit, Shah, Dhaval, Lal, Sonia, Vinnakota, Ravi, Charrow, Elliott J, Forman, Leanne

“…Psoriasis is a papulosquamous disease of multifactorial etiology. A combination of genetic and environmental agents is implicated in its pathogenesis. A…”
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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 by Pena, Loren, Angle, Brad, Burton, Barbara, Charrow, Joel

“…Purpose: To evaluate the growth, development, and medical histories of children with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase…”
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Gaucher disease and cancer incidence: a study from the Gaucher Registry by Rosenbloom, Barry E., Weinreb, Neal J., Zimran, Ari, Kacena, Katherine A., Charrow, Joel, Ward, Elizabeth

“…Patients with Gaucher disease (GD) are alleged to be at an increased risk of malignant disorders, possibly due to potential chronic stimulation of the immune…”
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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 by Weinreb, Neal J, Charrow, Joel, Andersson, Hans C, Kaplan, Paige, Kolodny, Edwin H, Mistry, Pramod, Pastores, Gregory, Rosenbloom, Barry E, Scott, C Ronald, Wappner, Rebecca S, Zimran, Ari

“…Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy. Previous studies in relatively small…”
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A 14-year-old boy with pain in hands and feet by Charrow, Joel

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

“…To determine whether enzyme therapy with imiglucerase/alglucerase demonstrates dose-response relationships with doses and disease parameters used in routine…”
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Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal study by Listernick, Robert, Charrow, Joel, Greenwald, Mark, Mets, Marilyn

“…To assess the natural history of optic pathway tumors (OPT) in children with neurofibromatosis type 1 (NF-1), from January 1985 through May 1993 we performed a…”
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Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome by King, Allison, Listernick, Robert, Charrow, Joel, Piersall, Linda, Gutmann, David H.

“…Children with neurofibromatosis type 1 (NF1) may present with optic pathway gliomas (OPG) that can progress to visual loss or other neurologic symptoms. These…”
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Individualization of long-term enzyme replacement therapy for Gaucher disease by 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.

“…Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Patients with nonneuronopathic…”
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Different colored eyes. Waardenburg syndrome by Charrow, Joel

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