Ari Zimran

Summary

Publications

  1. doi request reprint Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem, Israel
    Blood 118:5767-73. 2011
  2. ncbi request reprint How I treat Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University Hadassah Medical School, Jerusalem, Israel
    Blood 118:1463-71. 2011
  3. doi request reprint Velaglucerase alfa: a new option for Gaucher disease treatment
    A Zimran
    Shaare Zedek Medical Center, Jerusalem, Israel
    Drugs Today (Barc) 47:515-29. 2011
  4. ncbi request reprint Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease
    Allen Greenwood
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem, 91031, Israel
    Clin Rheumatol 29:1037-41. 2010
  5. ncbi request reprint Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease
    Itai Magal
    Gaucher Clinic, Shaare Zedek Medical Centre, Jerusalem, Israel
    Br J Haematol 133:93-7. 2006
  6. doi request reprint Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early Access Program results from Jerusalem
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, the Hebrew University and Hadassah Medical School, Jerusalem, Israel
    Blood Cells Mol Dis 48:45-50. 2012
  7. doi request reprint Disease severity in sibling pairs with type 1 Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 33:79-83. 2010
  8. doi request reprint Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem, Israel
    Blood Cells Mol Dis 50:134-7. 2013
  9. doi request reprint Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Yael Eitan
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Prenat Diagn 30:924-7. 2010
  10. ncbi request reprint C-reactive protein and NT-proBNP as surrogate markers for pulmonary hypertension in Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 34:201-5. 2005

Collaborators

Detail Information

Publications70

  1. doi request reprint Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem, Israel
    Blood 118:5767-73. 2011
    ..4, -32.8) in the 60-unit dose group (both P < .0001); and in all secondary efficacy end point measures, except platelet counts at the lower dose. These results support safety and efficacy of taliglucerase alfa for Gaucher disease...
  2. ncbi request reprint How I treat Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University Hadassah Medical School, Jerusalem, Israel
    Blood 118:1463-71. 2011
    ....
  3. doi request reprint Velaglucerase alfa: a new option for Gaucher disease treatment
    A Zimran
    Shaare Zedek Medical Center, Jerusalem, Israel
    Drugs Today (Barc) 47:515-29. 2011
    ..In vitro data suggest velaglucerase alfa may be internalized into cells more efficiently and have a lower rate of seroconversion. However, these results do not necessarily correlate with clinical efficacy...
  4. ncbi request reprint Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease
    Allen Greenwood
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem, 91031, Israel
    Clin Rheumatol 29:1037-41. 2010
    ..030) with the TT variant associated with lower BMD. As in other populations, VDR polymorphic genotype may be an independently sorting modifier in the prediction of BMD and bone involvement in Gaucher disease...
  5. ncbi request reprint Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease
    Itai Magal
    Gaucher Clinic, Shaare Zedek Medical Centre, Jerusalem, Israel
    Br J Haematol 133:93-7. 2006
    ..OPG levels probably do not predict BMD in Gaucher disease and hence are not indicative of osteoporosis in Gaucher disease...
  6. doi request reprint Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early Access Program results from Jerusalem
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, the Hebrew University and Hadassah Medical School, Jerusalem, Israel
    Blood Cells Mol Dis 48:45-50. 2012
    ..This report provides safety and efficacy findings in patients on EAP velaglucerase alfa who completed 6, 9, or 12 months as intravenous every-other-week ERT...
  7. doi request reprint Disease severity in sibling pairs with type 1 Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    J Inherit Metab Dis 33:79-83. 2010
    ....
  8. doi request reprint Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem, Israel
    Blood Cells Mol Dis 50:134-7. 2013
    ..6%, and -23.4% from baseline). Thus, ambroxol may be a safe option for Gaucher disease patients with potential disease-specific efficacy and should be expanded into a clinical trial using higher doses and placebo-controlled design...
  9. doi request reprint Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Yael Eitan
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Prenat Diagn 30:924-7. 2010
    ..The purpose of this survey is to ascertain disease status of children identified by prenatal screening...
  10. ncbi request reprint C-reactive protein and NT-proBNP as surrogate markers for pulmonary hypertension in Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 34:201-5. 2005
    ..The purpose of this study is to ascertain improved risk stratification based on correlation with NT-proBNP and C-reactive protein (CRP), a standard marker of inflammation...
  11. ncbi request reprint Monitoring of Gaucher patients with a novel chitotriosidase assay
    Aricha Schoonhoven
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Clin Chim Acta 381:136-9. 2007
    ..Given the limitations associated with the use of these substrates, a novel substrate, 4MU-deoxychitobiose, has recently been conceived...
  12. doi request reprint Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density
    Efrat Arnheim
    Gaucher Clinic, Shaare Zedek Medical Center, One Bazak Road, PO Box 3235, Jerusalem, Israel
    Rheumatol Int 28:873-7. 2008
    ..01) in patients. Haplotypes of bone-specific candidate genes associated with BMD may predict severity of these features in Gaucher disease...
  13. ncbi request reprint Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy
    Menachem Itzchaki
    Department of Orthopedics, Shaare Zedek Medical Center, 91031 Jerusalem, Israel
    Acta Orthop Scand 75:641-53. 2004
    ..These reflect disease-related morbidity, with greater numbers of requests being made by patients requiring enzyme therapy, who by definition have more severe disease characteristics...
  14. ncbi request reprint Aggregation of red blood cells in patients with Gaucher disease
    Tomer Adar
    Gaucher Clinic, Shaare Zedek Medical Centre, Jerusalem, Israel
    Br J Haematol 134:432-7. 2006
    ..Our results do not support a role for RBC aggregation in the pathogenesis of vascular complications of Gaucher disease...
  15. doi request reprint The management of pregnancy in Gaucher disease
    Sorina Granovsky-Grisaru
    Dept of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel
    Eur J Obstet Gynecol Reprod Biol 156:3-8. 2011
    ....
  16. ncbi request reprint Gaucher disease in Arab patients at an Israeli referral clinic
    Ariel Brautbar
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Isr Med Assoc J 10:600-2. 2008
    ..Type II, the acute infantile form, being the rarest form, has not been associated with any ethnic predilection...
  17. doi request reprint Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease
    Avigayil Ribner
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Mov Disord 26:1341-3. 2011
    ..The aim of this study was to ascertain whether Gaucher patients with parkinsonism carry the osteopontin single-nucleotide polymorphism-66 polymorphic genotype TT to a greater extent than other Gaucher patients...
  18. doi request reprint Organ volume by computed tomography correlates with longitudinal axis on ultrasound in patients with Gaucher disease
    Deborah Elstein
    Shaare Zedek Medical Center, Jerusalem, Israel
    Ultrasound Q 27:225-8. 2011
    ..The purpose of this survey was to ascertain whether one can maximize the efficiency of US imaging by use of one US axis if it correlates with CT-generated volumes...
  19. doi request reprint Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease
    Michelle Lieblich
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:92-4. 2011
    ..The purpose of this study is to ascertain whether VDR genotype which is involved in the risk for many cancers including multiple myeloma is also correlated with cancers in patients with Gaucher disease...
  20. ncbi request reprint A comprehensive assessment of renal function in patients with Gaucher disease
    Rachel Becker-Cohen
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Kidney Dis 46:837-44. 2005
    ..Our aim was to perform a comprehensive evaluation of renal function in patients with GD...
  21. ncbi request reprint Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, 91031, Israel
    Genet Test 9:26-9. 2005
    ....
  22. ncbi request reprint Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood 115:4651-6. 2010
    ..The extension trial is registered at http://www.clinicaltrials.gov as NCT00391625...
  23. ncbi request reprint Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood 110:2296-301. 2007
    ..Gaucher disease type 1 (GD1) parameters were stable in most switched patients. Combination therapy did not show benefit. Findings suggest miglustat could be an effective maintenance therapy in stabilized patients with GD1...
  24. doi request reprint Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement
    Ehud Lebel
    Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Clin Pathol 140:91-6. 2013
    ..To assess correlations of patient demographics, including enzyme replacement therapy (ERT) with bone histology, to facilitate decisions of whether and when to perform hip replacement surgery in patients with Gaucher disease...
  25. doi request reprint Phenotype in patients with Gaucher disease and Parkinson disease
    Eli Ben Chetrit
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, affiliated with the Hebrew University Hadassah Medical School, Ein Karem, Israel
    Blood Cells Mol Dis 50:218-21. 2013
    ..However, the number of the reported cases of GD/PD is small and it is unknown whether certain GD phenotypes are associated with an increased PD risk...
  26. pmc Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis
    Gheona Altarescu
    ZOHAR PGD Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel School of Medicine, The Hebrew University, Jerusalem, Israel
    Mol Biol Int 2012:797342. 2012
    ..In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research...
  27. pmc Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
    Ari Zimran
    Shaare Zedek Medical Center and Hebrew University Hadassah Medical School, Jerusalem, Israel
    Am J Hematol 88:172-8. 2013
    ....
  28. ncbi request reprint Bone density changes with enzyme therapy for Gaucher disease
    Ehud Lebel
    Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    J Bone Miner Metab 22:597-601. 2004
    ....
  29. pmc Poor results of drilling in early stages of juxta-articular osteonecrosis in 12 joints affected by Gaucher disease
    Ehud Lebel
    Department of Orthopaedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    Acta Orthop 80:201-4. 2009
    ..We describe our experience in a large referral center using drilling for juxta-articular osteonecrosis in young patients with Gaucher disease...
  30. doi request reprint Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease
    Allen Greenwood
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Pediatr Cardiol 31:30-2. 2010
    ..Although a very small series, results seem to confirm preponderance of the BsmI B allele in type 3c as in other aortic calcifications, but also implicate linkage between ApaI and BsmI genotypes...
  31. doi request reprint Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding
    Galia Spectre
    Coagulation Unit Paediatric Haematology Oncology Department, Hadassah Hebrew University Medical Centre, Jerusalem, Israel
    Br J Haematol 153:372-8. 2011
    ..Platelet aggregation defect was not associated with mucosal bleeding. In conclusion, platelet adhesion defect is a major thrombocytopathy in type I GD patients and can explain part of the increased tendency to bleeding...
  32. ncbi request reprint Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease
    Ariel Brautbar
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Eur J Gastroenterol Hepatol 17:679-81. 2005
    ..To describe a unique case of a young man with Gaucher disease who was diagnosed with Menetrier's disease...
  33. doi request reprint Acupuncture for symptoms of Gaucher disease
    Noah Samuels
    Center for Integrative Complementary Medicine, Shaare Zedek Medical Center, Jerusalem, Israel
    Complement Ther Med 20:131-4. 2012
    ..The purpose of this study was to examine the effect of acupuncture on bone/joint pain, headache and fatigue, as well as quality of life in patients with Gaucher disease (GD), within the framework of an integrated treatment programme...
  34. ncbi request reprint Gaucher disease: spectrum of sonographic findings in the liver
    Irith Hadas-Halpern
    Department of Diagnostic Radiology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Ultrasound Med 29:727-33. 2010
    ..With the advent of specific enzyme replacement therapy (ERT), sonographic monitoring of changes in both hepatomegaly and the echogenicity of the hepatic tissue may highlight features that are amenable to ERT...
  35. ncbi request reprint Outcome of ten years' echocardiographic follow-up in children with Gaucher disease
    Dror Rosengarten
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Eur J Pediatr 166:549-51. 2007
    ..At the present time we believe that a baseline examination to rule out abnormalities would be sufficient...
  36. doi request reprint Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 47:56-61. 2011
    ..These results suggest that velaglucerase alfa may hold promise in the management of skeletal pathology associated with GD1...
  37. ncbi request reprint Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
    Assaf Halperin
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 36:426-8. 2006
    ..05). While based completely on subjective reports in a paper-base questionnaire, the results of this survey implicate a high rate of Parkinson disease among individuals with Gaucher disease mutations...
  38. ncbi request reprint National health budgets for expensive orphan drugs: Gaucher disease in Israel as a model
    Irina Kesselman
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 37:46-9. 2006
    ....
  39. ncbi request reprint Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement
    Ehud Lebel
    Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    Isr Med Assoc J 5:595-6. 2003
  40. doi request reprint Hip arthroplasty in patients with Gaucher disease
    Ehud Lebel
    Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:60-5. 2011
    ....
  41. ncbi request reprint Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome
    Miriam Ben Harosh-Katz
    Gaucher Clinic and the Department of Diagnostic Radiology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Clin Gastroenterol 38:586-9. 2004
    ..The purpose of this study is to ascertain the incidence of gallstones among adult patients with type 1 Gaucher disease and whether the presence of the UDPGT1 polymorphism (Gilbert syndrome), increases the incidence of gallstones...
  42. ncbi request reprint N-brain natriuretic peptide: correlation with tricuspid insufficiency in Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, 91031 Jerusalem, Israel
    Pulm Pharmacol Ther 17:319-23. 2004
    ..Further studies will be required to ascertain if NT-proBNP can be used for diagnosis and monitoring of these patients...
  43. doi request reprint Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply
    Ari Zimran
    Gaucher Clinic and Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:111-4. 2011
    ....
  44. ncbi request reprint Effect of enzyme replacement therapy on gammopathies in Gaucher disease
    Ariel Brautbar
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Blood Cells Mol Dis 32:214-7. 2004
    ....
  45. ncbi request reprint Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases
    Shachar Zuckerman
    Hebrew University Hadassah Medical School, Jerusalem, Israel
    JAMA 298:1281-90. 2007
    ..Carrier screening for GD is controversial because common type 1 GD is often asymptomatic and effective treatment exists. However, screening is offered to Ashkenazi Jews worldwide and has been offered in Israel since 1995...
  46. ncbi request reprint Survey of hematological aspects of Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Hematology 10:151-6. 2005
    ..It is therefore appropriate to review that has changed and what has remained the same in hematological signs and symptoms of the disease in the decade and a half since therapy has become available...
  47. ncbi request reprint Cementless total hip arthroplasties in Gaucher disease: long-term follow-up
    Ehud Lebel
    Department of Orthopaedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Orthop (Belle Mead NJ) 38:130-2. 2009
    ..Because patients with chronic metabolic disorders differ from healthy patients with traumatic fractures, the results reported in this article may have implications for nontraumatic hip arthroplasty...
  48. ncbi request reprint TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease
    Gheona Altarescu
    Genetic Unit, Shaare Zedek Medical Center, Jerusalem, Israel
    Cytokine 31:149-52. 2005
    ..non-neuronopathic form, of Gaucher disease (versus the neuronopathic forms), this may be suggestive of an association between genetic variability in TNF-alpha and phenotypic expression in Gaucher disease. Larger studies will be required...
  49. ncbi request reprint D-dimer assay in Gaucher disease: correlation with severity of bone and lung involvement
    David Shitrit
    Department of Internal Medicine, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hematol 73:236-9. 2003
    ..There were significant correlations between D-dimers and avascular necrosis, splenectomy, and elevated TI gradient. Thus, the D-dimer assay may be potentially predictive of bone and lung involvement in Gaucher disease...
  50. ncbi request reprint Uncomplicated outcome after anesthesia for pediatric patients with Gaucher disease
    Alexandr Ioscovich
    Department of Anesthesiology, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Can J Anaesth 52:845-7. 2005
    ..To date, no series of routine surgeries in pediatric patients with non-neuronopathic Gaucher disease has been published...
  51. ncbi request reprint A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, POB 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 39:115-8. 2007
    ..To evaluate pharmacokinetics of Gene-Activated human glucocerebrosidase (GA-GCB), a novel enzyme replacement therapy, in patients with type 1 Gaucher disease...
  52. pmc Gaucher disease and the clinical experience with substrate reduction therapy
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Centre, PO Box 3235, 1 Besek Road, Jerusalem 91031, Israel
    Philos Trans R Soc Lond B Biol Sci 358:961-6. 2003
    ..Yet, given the above side effects and the lack of long-term experience, patients with very mild manifestations would probably not be appropriate candidates...
  53. ncbi request reprint Amyloidosis and gastric bleeding in a patient with Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    J Clin Gastroenterol 37:234-7. 2003
    ..To describe the clinical course of a patient with Gaucher disease who subsequently developed amyloidosis...
  54. ncbi request reprint Iliopsoas hematoma in a young patient with type I Gaucher disease
    Marina Jmoudiak
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Isr Med Assoc J 5:673-4. 2003
  55. ncbi request reprint Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Genet Med 7:124-30. 2005
    ..Using these tests, cognitive function was assessed in patients treated with miglustat, in patients receiving enzyme replacement (standard care for symptomatic patients), and in untreated (milder) patients...
  56. ncbi request reprint Uveitis in Gaucher disease
    Altoon Dweck
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Ophthalmol 140:146-7. 2005
    ..Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease...
  57. ncbi request reprint Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
    Ari Zimran
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Blood Cells Mol Dis 34:197-200. 2005
    ..The purpose of the study was to ascertain numbers of cancers in type I Gaucher disease since this is of considerable concern to patients and physicians...
  58. ncbi request reprint Rheological determinants in patients with Gaucher disease and internal inflammation
    Ari Zimran
    Department of Medicine, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hematol 75:190-4. 2004
    ..These findings might have rheological consequences in terms of microcirculatory slow flow and tissue hypoxemia...
  59. doi request reprint Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model
    Gheona Altarescu
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:15-8. 2011
    ..Most cases involve severe genetic diseases with neurological features and/or major malformations. We present two couples in which PGD was performed for prevention of type 1 Gaucher disease, a non-neuronopathic, non-lethal disorder...
  60. ncbi request reprint Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-year follow-up
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, The Hebrew University Hadassah School of Medicine, Jerusalem, Israel Electronic address
    Blood Cells Mol Dis 53:56-60. 2014
    ..Bone marrow infiltration by substrate-engorged "Gaucher" cells manifests early in Gaucher disease (GD). The impact of velaglucerase alfa on bone marrow burden (BMB) was evaluated as an exploratory assessment...
  61. ncbi request reprint Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, affiliated with the Hadassah Medical Center Hebrew University Medical School, Jerusalem, Israel
    J Obstet Gynaecol Res 40:968-75. 2014
    ..The objective of this study was to ascertain pregnancy outcome in women receiving VPRIV...
  62. ncbi request reprint The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation
    Ariel Brautbar
    Department of Medicine, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Blood Cells Mol Dis 31:187-9; discussion 190-1. 2003
    ..In view of its rarity and mild expression, the inclusion of the 1604A mutation in the standard kit for screening for Gaucher disease is unnecessary...
  63. ncbi request reprint The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause)
    Ari Zimran
    Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 43:264-88. 2009
    ..In order to determine the optimal management of female Gaucher patients based on available data, we examine reproductive events and GD in untreated and alglucerase and/or imiglucerase-treated females...
  64. ncbi request reprint Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease
    Bernard Rudensky
    The Laboratory of Immunology and Microbiology, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 30:97-9. 2003
    ..The FACS method allows single cell enzyme evaluation rather than global activity of cell lysate, and gives excellent separation between patients, carriers, and controls...
  65. ncbi request reprint Multiple hypoechoic hepatic lesions in a patient with Gaucher disease
    Michael Patlas
    Department of Radiology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Ultrasound Med 21:1053-5. 2002
    ..A biopsy specimen was taken from a hepatic lesion and revealed infiltration by Gaucher cells. We discuss our findings in light of the putative increased incidence of hematologic malignancies in patients with Gaucher disease...
  66. ncbi request reprint Thrombocytosis associated with enzyme replacement therapy in Gaucher disease
    Altoon Dweck
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Acta Haematol 108:94-6. 2002
    ..Platelet counts dropped immediately after the discontinuation of ERT...
  67. doi request reprint Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent
    Yaron Ilan
    Internal Medicine Liver Unit, Department of Medicine, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Immunol Cell Biol 87:514-24. 2009
    ..Indirectly, these data support treating symptomatic patients with mild/moderate GD with low-dose ERT and re-evaluating the use of ERT in asymptomatic patients...
  68. ncbi request reprint Pregnancies in Gaucher disease: a 5-year study
    Yonatan Elstein
    Gaucher Clinic and the Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Obstet Gynecol 190:435-41. 2004
    ..The study was undertaken to investigate the outcome of pregnancies in Gaucher disease, particularly in enzyme-treated women...
  69. doi request reprint A safety trial of high dose glyceryl triacetate for Canavan disease
    Reeval Segel
    Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    Mol Genet Metab 103:203-6. 2011
    ..Further larger studies of CD patients below age 3 months are required in order to test the long-term efficacy of this drug...
  70. ncbi request reprint Type I Gaucher disease in children with and without enzyme therapy
    Altoon Dweck
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Pediatr Hematol Oncol 19:389-97. 2002
    ..None of the children required splenectomy or developed lung involvement. Many patients diagnosed due to large-scale screening were very mildly affected and remain untreated...