Search Results - "WEINREB, N. J"

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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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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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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Response of Gaucher bone disease to enzyme replacement therapy by POLL, L. W, MAAS, M, TERK, M. R, ROCA-ESPIAU, M, BEMBI, B, CIANA, G, WEINREB, N. J

“…In Gaucher disease, enzyme replacement therapy usually reduces liver and spleen volumes and improves haematological abnormalities within 1 year. In contrast,…”
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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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Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase by Kaplan, Paige, Mazur, Alice, Manor, Orly, Charrow, Joel, Esplin, Joan, Gribble, T.John, Wappner, Rebecca S., Wisch, Jeffrey S., Weinreb, Neal J.

“…OBJECTIVES: The incidence and severity of growth retardation in children with type 1 Gaucher disease and the response to enzyme replacement therapy with…”
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A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1 by Kishnani, P.S., DiRocco, M., Kaplan, P., Mehta, A., Pastores, G.M., Smith, S.E., Puga, A.C., Lemay, R.M., Weinreb, N.J.

“…Imiglucerase (Cerezyme®) has been the standard of care for treatment of Gaucher disease, a lysosomal storage disorder resulting from deficiency of…”
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Interruption in enzyme replacement therapy for gaucher disease by Weinreb, Neal J.

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Euthanasia and doctor-assisted suicide : Responses by oncologists and non-oncologists by ABRAMSON, N, STOKES, J, WEINREB, N. J, CLARK, W. S

“…Public interest concerning euthanasia and doctor-assisted suicide is creating ethical dilemmas in the health care profession. We surveyed the views of…”
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Response to Cohen by Charrow, J, Dulisse, B, Grabowski, GA, Weinreb, NJ

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The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease by Charrow, J, Andersson, H C, Kaplan, P, Kolodny, E H, Mistry, P, Pastores, G, Rosenbloom, B E, Scott, C R, Wappner, R S, Weinreb, N J, Zimran, A

“…The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of 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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Gaucher disease: recommendations on diagnosis, evaluation, and monitoring by Charrow, J, Esplin, J A, Gribble, T J, Kaplan, P, Kolodny, E H, Pastores, G M, Scott, C R, Wappner, R S, Weinreb, N J, Wisch, J S

“…Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and…”
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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Concensus (GED-C) Delphi initiative (vol 49, pg 578, 2019) by Mehta, A, Kuter, DJ, Salek, SS, Belmatoug, N, Bembi, B, Bright, J, Dahl, SV, Deodato, F, Di, Rocco M, Göker-Alpan, O

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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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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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Original Article: 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, G A, Weinreb, N J

“…Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease…”
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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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The lysosomal localization of sphingolipid hydrolases by Weinreb, N J, Brady, R O, Tappel, A L

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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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