نتایج جستجو برای: gaucher type 1

تعداد نتایج: 3648308  

Journal: :Molecular Genetics and Metabolism Reports 2017

Journal: :Indian pediatrics 2011
A Nagral P Mewawalla S Jagadeesh M Kabra S R Phadke I C Verma R D Puri N Gupta P S Kishnani P K Mistry

OBJECTIVE Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease. DESIGN Retrospective analysis of patients receiving CHO-derived recombinant macrophage-targetted glucocorebrosidase. SETTING Five centers from India with experience in treating lysos...

2013
K Wyatt W Henley L Anderson R Anderson V Nikolaou K Stein L Klinger D Hughes S Waldek R Lachmann A Mehta A Vellodi S Logan

List of abbreviations Executive summary Background Objectives Methods Results Conclusions Recommendations for research Funding Chapter 1 Background Lysosomal storage disorders Summary of lysosomal storage disorders investigated in this study Patterns of treatment in England Rationale for the cohort study Background and objectives Chapter 2 Methods Study procedures Data collection Methods used i...

2009
Vijay Saroha Parul Gupta Meeta Singh Tejinder Singh

Gaucher-like or pseudo-Gaucher cells have been noted in a variety of conditions including acute lymphoblastic leukemia, Hodgkin's disease, thalassemia, and multiple myeloma. They have an eccentric, lobulated nucleus, foamy cytoplasm but lack the tubular inclusions seen in Gaucher cells. The pseudo-Gaucher cells have distinct appearances on electron microscopy which distinguish them from true Ga...

2012
Carla EM Hollak

Gaucher disease is an inherited lysosomal storage disorder, characterized by deficient activity of glucocerebrosidase leading to storage of glucocerebroside in tissue macrophages. Type I disease, the most prevalent form, lacks central nervous system involvement but presents primarily with variable degrees of hepatosplenomegaly, cytopenia, and bone disease. Intravenous enzyme replacement therapy...

Journal: :Haematologica 2012
Laura van Dussen Timothy M Cox Erik J Hendriks Elizabeth Morris Erik M Akkerman Mario Maas Johanna E M Groener Johannes M F G Aerts Patrick B Deegan Carla E M Hollak

This paper describes the effects of a switch to velaglucerase alfa in a group of adult patients with type 1 Gaucher disease, all of whom had previously had their dose reduced as a consequence of the worldwide imiglucerase shortage. Thirty-two patients from two large European Gaucher centers switched to treatment with velaglucerase alfa after 1-8.5 months of dose reduction. The course of importa...

Journal: :Molecular genetics and metabolism 2016
Laurie Smith William Rhead Joel Charrow Suma P Shankar Ashish Bavdekar Nicola Longo Rebecca Mardach Paul Harmatz Thomas Hangartner Hak-Myung Lee Eric Crombez Gregory M Pastores

BACKGROUND Gaucher Disease type 1 (GD1) often manifests in childhood. Early treatment with enzyme replacement therapy (ERT) may prevent disease complications. We report the assessment of velaglucerase alfa ERT in pediatric GD1 patients who participated in a long-term extension study (HGT-GCB-044, ClinicalTrials.gov Identifier NCT00635427). METHODS Safety and efficacy were evaluated in pediatr...

2017
Pramod K Mistry Elena Lukina Hadhami Ben Turkia Suma P Shankar Hagit Baris Marwan Ghosn Atul Mehta Seymour Packman Gregory Pastores Milan Petakov Sarit Assouline Manisha Balwani Sumita Danda Evgueniy Hadjiev Andres Ortega Sebastiaan J M Gaemers Regina Tayag M Judith Peterschmitt

Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients). In the primary analysis of the Phase 3 ENGAGE trial (NCT00891202), eliglustat treatment for 9 months resulted in significant reductions in spleen and liver volumes and increases in hemoglobin conc...

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