Search Results - "Weinreb, J"

Spinal cord injury models: a review by Cheriyan, T, Ryan, D J, Weinreb, J H, Cheriyan, J, Paul, J C, Lafage, V, Kirsch, T, Errico, T J

“…Background: Animal spinal cord injury (SCI) models have proved invaluable in better understanding the mechanisms involved in traumatic SCI and evaluating the…”
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Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: A study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry by Khan, Aneal, Hangartner, Thomas, Weinreb, Neal J, Taylor, John S, Mistry, Pramod K

“…We hypothesized that overall disease activity or the severity of involvement of individual disease compartments, as measured by clinical and surrogate markers,…”
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Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS) by Titievsky, Lina, Schuster, Tilman, Wang, Ronnie, Younus, Muhammad, Palladino, Andrew, Quazi, Kabir, Wajnrajch, Michael P, Hernandez, Betina, Becker, Pamela S, Weinreb, Neal J, Chambers, Christina, Mansfield, Roy, Taylor, Louise, Tseng, Li-Jung, Kaplan, Paige

“…Limited real-world data from routine clinical care are available on the safety and effectiveness of treatment with taliglucerase alfa in patients with Gaucher…”
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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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End-Organ Function and Exercise Performance in Patients With Fontan Circulation: What Characterizes the High Performers? by Weinreb, Scott J, Dodds, Kathryn M, Burstein, Danielle S, Huang, Jing, Rand, Elizabeth B, Mancilla, Edna, Heimall, Jennifer R, McBride, Michael G, Paridon, Stephen M, Goldberg, David J, Rychik, Jack

“…Background The physiologic hallmarks of the Fontan circulation-chronically elevated central venous pressures and low cardiac output-have significant effects…”
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Therapeutic goals in the treatment of Gaucher disease by Pastores, Gregory M., Weinreb, Neal J., Aerts, Hans, Andria, Generoso, Cox, Timothy M., Giralt, Manuel, Grabowski, Gregory A., Mistry, Pramod K., Tylki-Szymańska, Anna

“…Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease…”
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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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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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The attenuated/late onset lysosomal storage disorders: Therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease by Hollak, Carla E.M., MD, PhD, Weinreb, Neal J., MD

“…Enzyme replacement therapies have been developed and authorized for commercial use for six different lysosomal storage disorders. For Gaucher disease, Fabry…”
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Patients with Gaucher disease display systemic oxidative stress dependent on therapy status by Kartha, Reena V., Terluk, Marcia R., Brown, Roland, Travis, Abigail, Mishra, Usha R., Rudser, Kyle, Lau, Heather, Jarnes, Jeanine R., Cloyd, James C., Weinreb, Neal J.

“…Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme,…”
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The international cooperative Gaucher group (ICCG) Gaucher registry by Weinreb, Neal J

“…Gaucher disease GD), is a rare lysosomal storage disorder caused by deficient acid β-glucosylceramidase activity and accumulation of glucosylceramide in tissue…”
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Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study by Sims, KB, Pastores, GM, Weinreb, NJ, Barranger, J, Rosenbloom, BE, Packman, S, Kaplan, P, Mankin, H, Xavier, R, Angell, J, Fitzpatrick, MA, Rosenthal, D

“…Progressive skeletal disease accounts for some of the most debilitating complications of type 1 Gaucher disease. In this 48‐month, prospective, non‐randomized,…”
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Abdominal MR imaging with a volumetric interpolated breath-hold examination by Rofsky, N M, Lee, V S, Laub, G, Pollack, M A, Krinsky, G A, Thomasson, D, Ambrosino, M M, Weinreb, J C

“…To compare a T1-weighted, three-dimensional (3D), gradient-echo (GRE) sequence for magnetic resonance (MR) imaging of the body (volumetric interpolated…”
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Skeletal aspects of Gaucher disease: a review by WENSTRUP, R. J, ROCA-ESPIAU, M, WEINREB, N. J, BEMBI, B

“…In Gaucher disease, a genetic deficiency in the activity of the lysosomal enzyme beta-glucocerebrosidase (acid beta-glucosidase) causes monocytes and…”
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Hepatocellular carcinoma and dysplastic nodules in patients with cirrhosis: prospective diagnosis with MR imaging and explantation correlation by Krinsky, G A, Lee, V S, Theise, N D, Weinreb, J C, Rofsky, N M, Diflo, T, Teperman, L W

“…To determine the sensitivity and specificity of magnetic resonance (MR) imaging for detection of hepatocellular carcinoma (HCC) and dysplastic nodules (DNs) by…”
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Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative by Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari

“…Background Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease…”
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Breath-hold single-dose gadolinium-enhanced three-dimensional MR aortography: usefulness of a timing examination and MR power injector by Earls, J P, Rofsky, N M, DeCorato, D R, Krinsky, G A, Weinreb, J C

“…To determine the usefulness of a timing examination performed with 1 mL gadopentetate dimeglumine administered with a magnetic resonance (MR) power injector at…”
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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease by Goker-Alpan, Ozlem, Gambello, Michael J., Maegawa, Gustavo H. B., Nedd, Khan J., Gruskin, Daniel J., Blankstein, Larry, Weinreb, Neal J.

“…Introduction: Agalsidase alfa and agalsidase beta, recombinant enzyme preparations for treatment of Fabry disease (FD), have different approved dosing…”
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A validated disease severity scoring system for adults with type 1 Gaucher disease by Weinreb, Neal J., Cappellini, Maria D., Cox, Timothy M., Giannini, Edward H., Grabowski, Gregory A., Hwu, Wuh-Liang, Mankin, Henry, Martins, Ana Maria, Sawyer, Carolyn, Vom Dahl, Stephan, Yeh, Michael S., Zimran, Ari

“…A validated disease severity scoring system (DS3) for Gaucher disease type 1 (GD1) is needed to standardize patient monitoring and to define patient cohorts in…”
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MR imaging of the breast by Weinreb, J C, Newstead, G

“…Studies suggest that magnetic resonance (MR) imaging may have a variety of roles in the detection and management of breast disease. However, because study…”
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