D Elstein

Summary

Affiliation: Shaare Zedek Medical Center
Country: Israel

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. doi request reprint X-inactivation in Fabry disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University, Hadassah Medical School, Ein Karem, Jerusalem, Israel
    Gene 505:266-8. 2012
  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. 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
  8. doi request reprint Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study
    D Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem, 91031, Israel
    J Inherit Metab Dis 31:518-23. 2008
  9. 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
  10. 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

Collaborators

Detail Information

Publications101 found, 100 shown here

  1. 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
    ....
  2. 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...
  3. 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...
  4. 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...
  5. doi request reprint X-inactivation in Fabry disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Hebrew University, Hadassah Medical School, Ein Karem, Jerusalem, Israel
    Gene 505:266-8. 2012
    ..The purpose of this study was to ascertain whether skewed X-inactivation favoring the mutant α-galactosidase A allele exists in our cohort of female heterozygotes of Fabry 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. 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
    ....
  8. doi request reprint Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study
    D Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, P O Box 3235, Jerusalem, 91031, Israel
    J Inherit Metab Dis 31:518-23. 2008
    ..To test neurocognitive function in patients with late-onset Tay-Sachs disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS...
  9. 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...
  10. 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...
  11. ncbi request reprint Recent advances in treatment approaches to Gaucher disease
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Curr Pharm Biotechnol 12:854-60. 2011
    ....
  12. doi request reprint Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease
    D Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 46:119-23. 2011
    ..Therapeutic goals have been described to monitor achievement, maintenance and continuity of therapeutic response in patients with type 1 Gaucher disease receiving enzyme replacement therapy...
  13. 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...
  14. ncbi request reprint The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene?
    G Altarescu
    Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    QJM 96:575-8. 2003
    ..Individuals with Gaucher disease vary significantly with regard to degree of bone disease, but there are no predictive markers for severity of skeletal involvement...
  15. ncbi request reprint High prevalence of low serum vitamin B12 in a multi-ethnic Israeli population
    Y Gielchinsky
    Gaucher Clinic, Shaare Zedek Medical Centre, Jerusalem, Israel
    Br J Haematol 115:707-9. 2001
    ..These findings raise questions on the individual and community levels of serum B12. We recommend evaluation of B12 levels among geographically contingent peoples...
  16. ncbi request reprint High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry
    D Halle
    Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Med Genet 99:325-7. 2001
    ..Conversely, when a patient of Moroccan ancestry is diagnosed with a Neisserial infection, it is important to determine the complement status...
  17. ncbi request reprint Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
    D Elstein
    Shaare Zedek Medical Centre, Jerusalem, Israel
    J Inherit Metab Dis 27:757-66. 2004
    ..In conclusion, miglustat was increasingly effective over time and showed acceptable tolerability in patients who continued with treatment for 3 years...
  18. doi request reprint Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease
    G Altarescu
    Genetic Unit, Shaare Zedek Medical Center, Hebrew University, Jerusalem, Israel
    J Inherit Metab Dis 31:117-23. 2008
    ..Elevated interleukin-6 (IL-6) plasma levels and C-reactive protein (CRP) serum levels are associated with increased risk and worse outcome of ischaemic events, a serious prognostic sign in Fabry disease...
  19. doi request reprint Severe heart disease complicating pregnancy does not preclude a favourable pregnancy outcome: 15 years' experience in a single centre
    R Michaelson-Cohen
    Department Obstetrics and Gynecology, Hebrew University of Jerusalem, Shaare Zedek Medical Centre, Jerusalem, Israel
    J Obstet Gynaecol 31:597-602. 2011
    ..In conclusion, well-managed, motivated mothers with HD who benefit from comprehensive antenatal care, and are managed primarily by their obstetric and anaesthesia teams, can aspire to a good outcome for themselves and their babies...
  20. ncbi request reprint Lung involvement and enzyme replacement therapy in Gaucher's disease
    O Goitein
    Department of Radiology, Shaare Zedek Medical Center, Jerusalem, Israel
    QJM 94:407-15. 2001
    ..Clinically, some benefited significantly from enzyme therapy, but in contrast to the dramatic reduction in organomegaly, there was no normalization in pulmonary function or lung architecture...
  21. ncbi request reprint Chitotriosidase deficiency in survivors of Candida sepsis
    M Masoud
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    Blood Cells Mol Dis 29:116-8. 2002
    ..Several theories are considered to explain the results...
  22. doi request reprint Prevalence of low serum cobalamin in infertile couples
    R Pront
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Andrologia 41:46-50. 2009
    ..Recommendation for supplementation in both males and females to achieve high-normal levels of cobalamin would be prudent...
  23. ncbi request reprint Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease?
    A Halperin
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Acta Neurol Scand 115:275-8. 2007
    ..A previous epidemiological survey from an American referral clinic noted a high incidence of neurological symptoms among patients with type I (non-neuronopathic) Gaucher disease all of whom were treated with specific enzyme replacement...
  24. ncbi request reprint Outcome of total hip arthroplasty in patients with Gaucher disease
    E Lebel
    Department of Orthopedics, Shaare Zedek Medical Center, Jerusalem, Israel
    J Arthroplasty 16:7-12. 2001
    ..In revisions, the results were not as good. THA is recommended in this population using criteria comparable to those in other patients, with equally good results...
  25. ncbi request reprint Platelet function abnormalities in Gaucher disease patients
    S Gillis
    Department of Hematology, Hadassah University Medical Center, Jerusalem, Israel
    Am J Hematol 61:103-6. 1999
    ..Platelet dysfunction is a hitherto unrecognised, relatively common cause of excessive bleeding in Gaucher patients...
  26. ncbi request reprint Ethical considerations for enzyme replacement therapy in neuronopathic Gaucher disease
    D Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Clin Genet 54:179-84. 1998
    ..In conclusion. we describe recommendations for the ethical treatment and/or withdrawal of treatment, as well as practical guidelines for dosage regimens, in children with neuronopathic Gaucher disease...
  27. ncbi request reprint PAPP-A levels as an early marker of idiopathic preterm birth: a pilot study
    S Grisaru-Granovsky
    Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Perinatol 27:681-6. 2007
    ..PAPP-A, IGF-I and IGF-III analysis were performed. Primary end point was delivery < or =7 days. Accuracy and optimally predictive PAPP-A values were based on receiver operator characteristic (ROC) curves...
  28. ncbi request reprint Viral infections and phenotypic heterogeneity in Gaucher disease
    G Pines
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Blood Cells Mol Dis 27:358-61. 2001
    ..In conclusion, other than a small subset of patients who showed a pattern comparable to immunosuppression, there was no association between severity of Gaucher disease and prior EBV or CMV infection...
  29. 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...
  30. ncbi request reprint Ozone administration reduces reperfusion injury in an isolated rat heart model
    Ofer Merin
    Department of Cardiothoracic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
    J Card Surg 22:339-42. 2007
    ..Accumulating clinical experience with ozone administration for conditions associated with ischemia has been encouraging. The aim of our study was to determine the effect of ozone on reperfusion injury in an isolated rat heart model...
  31. ncbi request reprint Gaucher disease: pediatric concerns
    Deborah Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Paediatr Drugs 4:417-26. 2002
    ..In addition, there is the potential for bone marrow transplantation and, in the future, gene therapy to be curative, particularly for patients with the neuronopathic forms...
  32. 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...
  33. ncbi request reprint Decreased salivary output in patients with Gaucher disease
    B Dayan
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel
    QJM 96:53-6. 2003
    ..In a preliminary screening of 109 patients with type I disease, when asked specifically about dry mouth, approximately one quarter claimed to suffer from this symptom...
  34. ncbi request reprint Anesthesia for obstetric patients with Gaucher disease: survey and review
    A Ioscovich
    Department of Anesthesia and the Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Int J Obstet Anesth 13:244-50. 2004
    ..A multidisciplinary approach and extensive communication among obstetrician, hematologist and anesthesiologist is required to anticipate the possibility of post-partum hemorrhage, and preclude skeletal damage...
  35. ncbi request reprint The effect of hormone replacement therapy on cognitive function in post-menopausal women
    R Lavi
    Gaucher Clinic, Shaare Zedek Medical Center, One Bazak Road, Jerusalem 91031, Israel
    QJM 100:567-73. 2007
    ..Despite interest in causes of dementia in older persons, particularly in post-menopausal women, it is unclear whether hormone replacement therapy (HRT) is a risk factor...
  36. ncbi request reprint Plasma chitotriosidase activity in patients with beta-thalassemia
    G Altarescu
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Hematol 71:7-10. 2002
    ..Our results confirm results of the Italian cohort; however, in the latter, a more universal correlation was noted and chitotriosidase levels were much higher...
  37. ncbi request reprint Increased red blood cell aggregation in patients with Gaucher disease is non-inflammatory
    T Adar
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Clin Hemorheol Microcirc 40:113-8. 2008
    ....
  38. ncbi request reprint Fibromyalgia and Gaucher's disease
    A Brautbar
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    QJM 99:103-7. 2006
    ..These may indicate fibromyalgia syndrome; if so, other therapeutic options might be more appropriate...
  39. 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...
  40. ncbi request reprint Incidence of thrombophilia in patients with Gaucher disease
    D Elstein
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Med Genet 95:429-31. 2000
    ..Studies in larger cohorts and possibly inclusion of additional factors may be needed to ascertain whether a correlation exists...
  41. pmc Mandibular and dental manifestations of Gaucher disease
    H R Saranjam
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 3708, USA
    Oral Dis 18:421-9. 2012
    ..Therefore, it is essential that dental practitioners be aware of the possible oral and dental complications of Gaucher disease, as well as the available treatment modalities...
  42. doi request reprint Congenital diaphragmatic hernia: review of the literature in reflection of unresolved dilemmas
    S Grisaru-Granovsky
    Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
    Acta Paediatr 98:1874-81. 2009
    ..Congenital diaphragmatic hernia (CDH) is a rare but clinically and scientifically challenging condition. The introduction of ultrasound has enabled early prenatal detection and consequently, hope of early therapeutic intervention...
  43. ncbi request reprint Temporizing treatment for the respiratory-compromised gravida: an observational study of maternal and neonatal outcome
    S Grisaru-Granovsky
    Department of Obstetrics and Gynecology, the Intensive Care Unit and Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Int J Obstet Anesth 16:261-4. 2007
    ..We conclude that when the maternal condition is amenable to therapy, and given the risks of labor induction and of prematurity, there is only limited benefit of delivery while on mechanical ventilation...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. ncbi request reprint Effect of ozone on neutrophil function in vitro
    M Margalit
    Gaucher Clinic and the Department of Medicine and Surgery A, Shaare-Zedek Medical Center, Hadassah University Hospital (Mount Scopus, Jerusalem, Israel
    Clin Lab Haematol 23:243-7. 2001
    ..Combined with previous data, it seems that well-designed clinical trials to assess the efficacy of major autohemotherapy would pose no danger to blood cell populations, and should be encouraged...
  49. doi request reprint Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease
    N Givol
    Department of Oral and Maxilo Facial Surgery, Sheba Medical Center, Tel Hashomer, Israel
    Haemophilia 18:117-21. 2012
    ..Platelet transfusions are not mandatory and should be applied considering the procedure-related risk and the patient's calculated haematological risk for bleeding...
  50. 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
  51. 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...
  52. 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...
  53. 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
    ....
  54. doi 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...
  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 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...
  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 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...
  59. doi 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...
  60. 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...
  61. doi request reprint Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease
    Michael Teitcher
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Genetica 134:377-83. 2008
    ..Despite the limitations of using the MSSI score as a clinical correlate, these results are provocative and further studies in larger cohorts with more males are recommended...
  62. 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...
  63. 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...
  64. 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...
  65. 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...
  66. ncbi request reprint Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years
    Michael Patlas
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Hematol J 3:17-20. 2002
    ..Our findings also underscore the efficacy of enzyme replacement, but raise the question of the need for dose reduction as nearly normal organ volumes are achieved...
  67. 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
    ....
  68. ncbi request reprint An association study of inflammatory cytokine gene polymorphisms in Fabry disease
    Rachael Safyan
    Gaucher Clinic, Shaare Zedek Medical Center, PO Box 3235, Jerusalem 91031, Israel
    Eur Cytokine Netw 17:271-5. 2006
    ..The aim of the study was to evaluate functional gene polymorphisms of key pro- and anti-inflammatory cytokines and to correlate them to a clinical score to assess the potential role of inflammation in Fabry disease...
  69. 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...
  70. 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...
  71. 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...
  72. 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
  73. 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...
  74. 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
    ....
  75. ncbi request reprint Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: results of a pilot study in Israel
    Sorina Grisaru-Granovsky
    Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Med Genet A 143:2557-63. 2007
    ..Maternal heterozygous allele state for PAR1 polymorphism [-1426] and the haplotype with [-506 wild-type]/[-1426T]/[IVS-14A] is associated with PTD...
  76. 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...
  77. 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...
  78. 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...
  79. 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...
  80. 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...
  81. 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...
  82. 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...
  83. 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...
  84. 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...
  85. 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...
  86. ncbi request reprint Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease
    Michael Patlas
    Department of Radiology, Shaare Zedek Medical Center, P O Box 3235, Jerusalem 91031, Israel
    Eur Radiol 12:397-400. 2002
    ..Our results highlight the initial dramatic and then continued response to ERT in pediatric patients with Gaucher disease...
  87. ncbi request reprint Tc-99m sestamibi bone marrow scintigraphy in Gaucher disease
    Dvora Aharoni
    Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel
    Clin Nucl Med 27:503-9. 2002
    ..This study was initiated as a pilot using MIBI to detect various forms of bone disease in patients with Gaucher disease of varying severity...
  88. 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...
  89. 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...
  90. ncbi request reprint The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    Ari Zimran
    N Engl J Med 352:728-31; author reply 728-31. 2005
  91. ncbi request reprint Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease
    Rene Heitner
    Department of Pediatrics, University of the Witwatersrand, Johannesburg, South Africa
    Blood Cells Mol Dis 28:127-33. 2002
    ..Results from the extension wherein some patients were dose increased suggest that 100 mg TID should be the preferred starting regimen for patients with symptomatic type I Gaucher disease...
  92. ncbi request reprint No justification for very high-dose enzyme therapy for patients with type III Gaucher disease
    Ari Zimran
    J Inherit Metab Dis 30:843-4. 2007
  93. ncbi request reprint Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease
    Ari Zimran
    The Scripps Research Institute, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA
    Blood 108:802-3. 2006
  94. ncbi request reprint Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship
    Sorina Grisaru-Granovsky
    Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
    Am J Obstet Gynecol 196:335.e1-5. 2007
    ..The purpose of this study was to ascertain whether hypertensive disorders of pregnancy and SGA correlate with severity of hypertension, suggestive of common pathophysiological pathways...
  95. ncbi request reprint Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model
    Ori Rogowski
    Department of Medicine D, Tel Aviv Sourasky Medical Center affiliated with the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Blood Cells Mol Dis 34:26-9. 2005
    ..This approach is not disease-specific and can be easily applied to any acute or subacute inflammatory disease/condition...
  96. ncbi request reprint Iliopsoas haematoma in Gaucher disease
    Aleksandar Lesic
    Institute for Orthopaedic Surgery and Traumatology, CCS, Belgrade, Serbia
    J Inherit Metab Dis 29:593. 2006
    ..Differential diagnosis is complicated by exquisite groin pain that is common to both Gaucher disease and extrapelvis haemorrhage, but not necessarily...
  97. ncbi request reprint Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention
    Peter J Meikle
    Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women s Health Service, Adelaide, South Australia, Australia
    Blood Cells Mol Dis 40:420-7. 2008
    ..Multivariate analysis enabled us to calculate the combined response of these lipids to therapy in Gaucher patients and correlate them with patient severity. Plasma lipids are proposed to be useful biomarkers for Gaucher disease...
  98. ncbi request reprint Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies
    Gregory M Pastores
    Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York, USA
    Clin Ther 29:1645-54. 2007
    ..The effect of enzyme replacement therapy (ERT) on GD bone disease can be limited and may take up to 8 years to become manifest. Miglustat, a glucosylceramide synthase inhibitor, may have a positive influence on GD bone disease...