PubRank

Deborah Elstein

Author PubWeight™ 72.04‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 2011 1.68
2 Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis 2012 1.58
3 Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood 2006 1.47
4 Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement. Isr Med Assoc J 2003 1.41
5 Uveitis in Gaucher disease. Am J Ophthalmol 2005 1.39
6 Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006 1.34
7 Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood 2010 1.30
8 Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther 2007 1.18
9 Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 2002 1.13
10 Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis 2005 1.09
11 An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw 2006 1.07
12 Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis 2010 1.05
13 Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One 2013 1.04
14 A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis 2007 1.03
15 Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci 2003 1.00
16 Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis 2004 0.98
17 Using the International Gaucher Disease Registry data: can we devise a virtuous circle for treated patients? Am J Hematol 2008 0.98
18 Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand 2004 0.98
19 Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol 2013 0.97
20 Survey of hematological aspects of Gaucher disease. Hematology 2005 0.96
21 Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship. Am J Obstet Gynecol 2007 0.95
22 Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol 2013 0.93
23 Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. J Clin Gastroenterol 2004 0.90
24 The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005 0.90
25 The effects of maternal age and parity on maternal and neonatal outcome. Arch Gynecol Obstet 2014 0.89
26 Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab 2010 0.89
27 Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Eur Radiol 2001 0.88
28 Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol 2002 0.87
29 Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J 2008 0.87
30 Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience. Adv Hematol 2013 0.87
31 Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab 2004 0.86
32 Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn 2011 0.86
33 Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention. Blood Cells Mol Dis 2007 0.86
34 Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med 2010 0.85
35 Dental profile of patients with Gaucher disease. BMC Oral Health 2003 0.85
36 Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease. Clin Rheumatol 2010 0.85
37 Phenotype in patients with Gaucher disease and Parkinson disease. Blood Cells Mol Dis 2012 0.85
38 Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease. Orphanet J Rare Dis 2013 0.84
39 C7 complement deficiency in an Israeli Arab village. Am J Med Genet 2002 0.84
40 Enzyme replacement therapy for mild patients with Gaucher disease. Am J Hematol 2009 0.83
41 Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol 2004 0.83
42 Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model. Blood Cells Mol Dis 2004 0.82
43 Hip arthroplasty in patients with Gaucher disease. Blood Cells Mol Dis 2010 0.82
44 National health budgets for expensive orphan drugs: Gaucher disease in Israel as a model. Blood Cells Mol Dis 2006 0.82
45 Iliopsoas hematoma in a young patient with type I Gaucher disease. Isr Med Assoc J 2003 0.82
46 Management of Gaucher disease: enzyme replacement therapy. Pediatr Endocrinol Rev 2014 0.81
47 Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease. Mov Disord 2011 0.81
48 Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease. Eur J Gastroenterol Hepatol 2005 0.81
49 Iliopsoas haematoma in Gaucher disease. J Inherit Metab Dis 2006 0.81
50 The role of leptin in fetal growth: a short review from conception to delivery. Eur J Obstet Gynecol Reprod Biol 2007 0.80
51 No justification for very high-dose enzyme therapy for patients with type III Gaucher disease. J Inherit Metab Dis 2007 0.80
52 Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease. Blood Cells Mol Dis 2003 0.80
53 Ozone administration reduces reperfusion injury in an isolated rat heart model. J Card Surg 2007 0.80
54 Rheological determinants in patients with Gaucher disease and internal inflammation. Am J Hematol 2004 0.79
55 Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. Immunol Cell Biol 2009 0.79
56 Aggregation of red blood cells in patients with Gaucher disease. Br J Haematol 2006 0.79
57 D-dimer assay in Gaucher disease: correlation with severity of bone and lung involvement. Am J Hematol 2003 0.78
58 TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease. Cytokine 2005 0.78
59 Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned? Prenat Diagn 2010 0.78
60 Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012 0.78
61 Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding. Br J Haematol 2011 0.78
62 Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest 2015 0.78
63 Screening for Gaucher disease: new challenges. Isr Med Assoc J 2014 0.77
64 Fabry disease in an oligosymptomatic male. Isr Med Assoc J 2011 0.77
65 The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation. Blood Cells Mol Dis 2003 0.77
66 Effect of thrombocytopenia on mode of analgesia/anesthesia and maternal and neonatal outcomes. J Matern Fetal Neonatal Med 2013 0.77
67 Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease. Pediatr Cardiol 2009 0.77
68 Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease. Genetica 2008 0.77
69 Early access experience with VPRIV(®): recommendations for 'core data' collection. Blood Cells Mol Dis 2010 0.77
70 Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model. Blood Cells Mol Dis 2010 0.77
71 Evolving features in type 3 Gaucher disease on long-term enzyme replacement therapy. Blood Cells Mol Dis 2012 0.77
72 Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: results of a pilot study in Israel. Am J Med Genet A 2007 0.77
73 Acupuncture for symptoms of Gaucher disease. Complement Ther Med 2012 0.76
74 Impaired platelet function and peripartum bleeding in women with Gaucher disease. Thromb Haemost 2011 0.76
75 Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease. Br J Haematol 2006 0.76
76 Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. Rheumatol Int 2008 0.76
77 Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease. Blood Cells Mol Dis 2009 0.76
78 Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease. Blood Cells Mol Dis 2011 0.76
79 Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years. Hematol J 2002 0.76
80 Poor results of drilling in early stages of juxta-articular osteonecrosis in 12 joints affected by Gaucher disease. Acta Orthop 2009 0.75
81 Alfa-fetoprotein and albumin levels together are more predictive of severe fetal hydrops. Am J Obstet Gynecol 2006 0.75
82 Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes. Blood Cells Mol Dis 2011 0.75
83 Peripartum anesthesia in grand-grand multiparous women (≥ 10 births). Health Care Women Int 2010 0.75
84 Paraoxonase (PON1) gene polymorphisms in Fabry disease: correlation with renal disease. Nephron Clin Pract 2010 0.75
85 Platelet counts and interleukin-6 (IL-6) promoter polymorphism in patients with Gaucher disease. Hematology 2003 0.75
86 Requests and usage of epidural analgesia in grand-grand multiparous and similar-aged women with lesser parity: prospective observational study. J Perinat Med 2011 0.75
87 Outcome of ten years' echocardiographic follow-up in children with Gaucher disease. Eur J Pediatr 2006 0.75
88 Images in anesthesia: Transesophageal echocardiography during Cesarean section in a Marfan's patient with aortic dissection. Can J Anaesth 2005 0.75
89 Retrospective audit of outcome of regional anesthesia for delivery in women with thrombocytopenia. J Perinat Med 2008 0.75
90 Prospective study of maternal and neonatal outcome in great-grand multiparous women (≥10 births) and in aged-matched women with lesser parity. Arch Gynecol Obstet 2010 0.75
91 A comprehensive assessment of renal function in patients with Gaucher disease. Am J Kidney Dis 2005 0.75
92 Cementless total hip arthroplasties in Gaucher disease: long-term follow-up. Am J Orthop (Belle Mead NJ) 2009 0.75
93 Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement. Am J Clin Pathol 2013 0.75
94 Tc-99m sestamibi bone marrow scintigraphy in Gaucher disease. Clin Nucl Med 2002 0.75
95 Multiple hypoechoic hepatic lesions in a patient with Gaucher disease. J Ultrasound Med 2002 0.75
96 Thrombocytosis associated with enzyme replacement therapy in Gaucher disease. Acta Haematol 2002 0.75
97 Coexistence of Fabry disease and Crohn's disease: a case report. Inflamm Bowel Dis 2005 0.75
98 Uncomplicated outcome after anesthesia for pediatric patients with Gaucher disease. Can J Anaesth 2005 0.75
99 Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease. Biomarkers 2013 0.75