메뉴 건너뛰기




Volumn , Issue , 2006, Pages 155-173

Type 1 gaucher disease - clinical features

Author keywords

[No Author keywords available]

Indexed keywords


EID: 34547712746     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1201/9781420005509     Document Type: Chapter
Times cited : (7)

References (78)
  • 1
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher’s disease: Clinical features and natural history
    • Cox, T.M. and Schofield, J.P., Gaucher’s disease: clinical features and natural history, Baillieres Clin Haematol, 10(4), 657, 1997.
    • (1997) Baillieres Clin Haematol , vol.10 , Issue.4 , pp. 657
    • Cox, T.M.1    Schofield, J.P.2
  • 2
    • 0011198070 scopus 로고    scopus 로고
    • Scriver CR, B.A., Sly W.S. et al., Eds., New York: McGraw-Hill
    • Beutler, E. and Grabowski, G.A., Gaucher Disease, Scriver CR, B.A., Sly W.S. et al., Eds., New York: McGraw-Hill, 2001.
    • (2001) Gaucher Disease
    • Beutler, E.1    Grabowski, G.A.2
  • 4
    • 24644466574 scopus 로고    scopus 로고
    • Survey of hematological aspects of Gaucher disease
    • Zimran, A. et al., Survey of hematological aspects of Gaucher disease, Hematology, 10(2), 151, 2005.
    • (2005) Hematology , vol.10 , Issue.2 , pp. 151
    • Zimran, A.1
  • 5
    • 0026465017 scopus 로고
    • Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
    • Baltimore
    • Zimran, A. et al., Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients, Medicine (Baltimore), 71(6), 337, 1992.
    • (1992) Medicine , vol.71 , Issue.6 , pp. 337
    • Zimran, A.1
  • 6
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibille, A. et al., Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications, Am J Hum Genet, 52, 1094, 1993.
    • (1993) Am J Hum Genet , vol.52 , pp. 1094
    • Sibille, A.1
  • 7
    • 0020014944 scopus 로고
    • The pathology of Gaucher disease
    • Lee, R.E., The pathology of Gaucher disease, Prog Clin Biol Res, 95, 177, 1982.
    • (1982) Prog Clin Biol Res , vol.95 , pp. 177
    • Lee, R.E.1
  • 8
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher disease
    • Pastores, G.M. et al., Therapeutic goals in the treatment of Gaucher disease, Semin Hematol, 41(4 Suppl 5), 4, 2004.
    • (2004) Semin Hematol , vol.41 , pp. 4
    • Pastores, G.M.1
  • 9
    • 0034626360 scopus 로고    scopus 로고
    • The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
    • Charrow, J. et al., The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease, Arch Intern Med, 160(18), 2835, 2000.
    • (2000) Arch Intern Med , vol.160 , Issue.18 , pp. 2835
    • Charrow, J.1
  • 10
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a “simple” disorder
    • Sidransky, E., Gaucher disease: complexity in a “simple” disorder, Mol Genet Metab, 83, 6, 2004.
    • (2004) Mol Genet Metab , vol.83 , pp. 6
    • Sidransky, E.1
  • 11
    • 0031292176 scopus 로고    scopus 로고
    • Gaucher disease: Gene frequencies and genotype/phenotype correlations
    • Grabowski, G.A., Gaucher disease: gene frequencies and genotype/phenotype correlations, Genet Test, 1(1), 5, 1997.
    • (1997) Genet Test , vol.1 , Issue.1 , pp. 5
    • Grabowski, G.A.1
  • 12
    • 0029773625 scopus 로고    scopus 로고
    • Occurrence of Parkinson’s syndrome in type I Gaucher disease
    • Neudorfer, O. et al., Occurrence of Parkinson’s syndrome in type I Gaucher disease, QJM, 89(9), 691, 1996.
    • (1996) QJM , vol.89 , Issue.9 , pp. 691
    • Neudorfer, O.1
  • 13
    • 15244348524 scopus 로고    scopus 로고
    • Gaucher disease and parkinsonism
    • Sidransky, E., Gaucher disease and parkinsonism, Mol Genet Metab, 84(4), 302, 2005.
    • (2005) Mol Genet Metab , vol.84 , Issue.4 , pp. 302
    • Sidransky, E.1
  • 14
    • 0024320293 scopus 로고
    • Prediction of severity of Gaucher’s disease by identification of mutations at DNA level
    • Zimran, A. et al., Prediction of severity of Gaucher’s disease by identification of mutations at DNA level, Lancet, 2(8659), 349, 1989.
    • (1989) Lancet , vol.2 , Issue.8659 , pp. 349
    • Zimran, A.1
  • 15
    • 0031899307 scopus 로고    scopus 로고
    • Type 1 Gaucher disease: Phenotypic expression and natural history in Japanese patients
    • Ida, H. et al., Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients, Blood Cells Mol Dis, 24(1), 73, 1998.
    • (1998) Blood Cells Mol Dis , vol.24 , Issue.1 , pp. 73
    • Ida, H.1
  • 16
    • 0033967982 scopus 로고    scopus 로고
    • The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations
    • Maaswinkel-Mooij, P. et al., The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations, J Inherit Metab Dis, 23(1), 77, 2000.
    • (2000) J Inherit Metab Dis , vol.23 , Issue.1 , pp. 77
    • Maaswinkel-Mooij, P.1
  • 17
    • 0031464244 scopus 로고    scopus 로고
    • Plasma and metabolic abnormalities in Gaucher’s disease
    • Aerts, J.M. and Hollak, C.E., Plasma and metabolic abnormalities in Gaucher’s disease, Baillieres Clin Haematol, 10(4), 691, 1997.
    • (1997) Baillieres Clin Haematol , vol.10 , Issue.4 , pp. 691
    • Aerts, J.M.1    Hollak, C.E.2
  • 18
    • 24644469894 scopus 로고    scopus 로고
    • Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
    • Deegan, P.B. et al., Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease, Blood Cells Mol Dis, 35(2), 259, 2005.
    • (2005) Blood Cells Mol Dis , vol.35 , Issue.2 , pp. 259
    • Deegan, P.B.1
  • 19
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • Barton, N.W. et al., Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease, Proc Natl Acad Sci U.S.A., 87(5), 1913, 1990.
    • (1990) Proc Natl Acad Sci U.S.A , vol.87 , Issue.5 , pp. 1913
    • Barton, N.W.1
  • 20
    • 0142178308 scopus 로고    scopus 로고
    • Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging - initial experience
    • Maas, M. et al., Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging - initial experience, Radiology, 229(2), 554, 2003.
    • (2003) Radiology , vol.229 , Issue.2 , pp. 554
    • Maas, M.1
  • 21
    • 0036783707 scopus 로고    scopus 로고
    • Quantification of skeletal involvement in adults with type I Gaucher’s disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter
    • Maas, M. et al., Quantification of skeletal involvement in adults with type I Gaucher’s disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter, AJR Am J Roentgenol, 179(4), 961, 2002.
    • (2002) AJR Am J Roentgenol , vol.179 , Issue.4 , pp. 961
    • Maas, M.1
  • 22
    • 27844605147 scopus 로고    scopus 로고
    • Divergent phenotypes in Gaucher disease implicate the role of modifiers
    • Goker-Alpan, O. et al., Divergent phenotypes in Gaucher disease implicate the role of modifiers, J Med Genet, 42(6), e37, 2005.
    • (2005) J Med Genet , vol.42 , Issue.6 , pp. e37
    • Goker-Alpan, O.1
  • 24
    • 0035000223 scopus 로고    scopus 로고
    • Gaucher disease. New approaches to an ancient disease
    • Mankin, H.J., Rosenthal, D.I., and Xavier, R., Gaucher disease. New approaches to an ancient disease, J Bone Joint Surg Am, 83-A(5), 748, 2001.
    • (2001) J Bone Joint Surg Am , vol.83 A , Issue.5 , pp. 748
    • Mankin, H.J.1    Rosenthal, D.I.2    Xavier, R.3
  • 25
    • 0024789707 scopus 로고
    • Resting energy expenditure in Gaucher’s disease type 1: Effect of Gaucher’s cell burden on energy requirements
    • Barton, D.J. et al., Resting energy expenditure in Gaucher’s disease type 1: effect of Gaucher’s cell burden on energy requirements, Metabolism, 38(12), 1238, 1989.
    • (1989) Metabolism , vol.38 , Issue.12 , pp. 1238
    • Barton, D.J.1
  • 26
    • 0031292176 scopus 로고    scopus 로고
    • Gaucher disease: Gene frequencies and genotype/phenotype correlations
    • Grabowski, G.A., Gaucher disease: Gene frequencies and genotype/phenotype correlations., Genet Testing, 1, 5, 1997.
    • (1997) Genet Testing , vol.1 , pp. 5
    • Grabowski, G.A.1
  • 27
    • 0027394416 scopus 로고
    • Gaucher disease: Gene frequencies in the Ashkenazi Jewish population
    • Beutler, E. et al., Gaucher disease: gene frequencies in the Ashkenazi Jewish population, Am J Hum Genet, 52(1), 85, 1993.
    • (1993) Am J Hum Genet , vol.52 , Issue.1 , pp. 85
    • Beutler, E.1
  • 28
    • 0029152768 scopus 로고
    • Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling
    • Sidransky, E., Tayebi, N., and Ginns, E.I., Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling, Clin Pediatr (Phila), 34(7), 365, 1995.
    • (1995) Clin Pediatr (Phila) , vol.34 , Issue.7 , pp. 365
    • Sidransky, E.1    Tayebi, N.2    Ginns, E.I.3
  • 29
    • 0031868229 scopus 로고    scopus 로고
    • Enzyme therapy for Gaucher disease: The first 5 years
    • Grabowski, G.A., Leslie, N., and Wenstrup, R., Enzyme therapy for Gaucher disease: the first 5 years, Blood Rev, 12(2), 115, 1998.
    • (1998) Blood Rev , vol.12 , Issue.2 , pp. 115
    • Grabowski, G.A.1    Leslie, N.2    Wenstrup, R.3
  • 30
    • 0037159549 scopus 로고    scopus 로고
    • 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
    • Weinreb, N.J. et al., 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, Am J Med, 113(2), 112, 2002.
    • (2002) Am J Med , vol.113 , Issue.2 , pp. 112
    • Weinreb, N.J.1
  • 31
    • 0032829209 scopus 로고    scopus 로고
    • Is there a correlation between degree of splenomegaly, symptoms and hypersplenism? A study of 218 patients with Gaucher disease
    • Gielchinsky, I. et al., Is there a correlation between degree of splenomegaly, symptoms and hypersplenism? A study of 218 patients with Gaucher disease, Br J Haematol, 106(3), 812, 1999.
    • (1999) Br J Haematol , vol.106 , Issue.3 , pp. 812
    • Gielchinsky, I.1
  • 33
    • 10744221808 scopus 로고    scopus 로고
    • Pediatric non-neuronopathic Gaucher disease: Presentation, diagnosis and assessment
    • Grabowski, G.A. et al., Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements, Eur J Pediatr, 163, 58, 2004.
    • (2004) Consensus statements, Eur J Pediatr , vol.163 , pp. 58
    • Grabowski, G.A.1
  • 34
    • 0032977820 scopus 로고    scopus 로고
    • Platelet function abnormalities in Gaucher disease patients
    • Gillis, S. et al., Platelet function abnormalities in Gaucher disease patients, Am J Hematol, 61(2), 103, 1999.
    • (1999) Am J Hematol , vol.61 , Issue.2 , pp. 103
    • Gillis, S.1
  • 35
    • 0032995288 scopus 로고    scopus 로고
    • Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease
    • Eapen, M., Hostetter, M., and Neglia, J.P., Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease, J Pediatr Hematol Oncol, 21(1), 47, 1999.
    • (1999) J Pediatr Hematol Oncol , vol.21 , Issue.1 , pp. 47
    • Eapen, M.1    Hostetter, M.2    Neglia, J.P.3
  • 36
    • 0020020286 scopus 로고
    • Phenotypic manifestations of Gaucher disease: Clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients
    • Kolodny, E.H. et al., Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients, Prog Clin Biol Res, 95, 33, 1982.
    • (1982) Prog Clin Biol Res , vol.95 , pp. 33
    • Kolodny, E.H.1
  • 37
    • 0030944777 scopus 로고    scopus 로고
    • Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients
    • Neudorfer, O. et al., Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients, Am J Hematol, 55, 28, 1997.
    • (1997) Am J Hematol , vol.55 , pp. 28
    • Neudorfer, O.1
  • 38
    • 0034821582 scopus 로고    scopus 로고
    • Wandering spleen in a young girl with Gaucher disease
    • Dweck, A. et al., Wandering spleen in a young girl with Gaucher disease, Isr Med Assoc J, 3(8), 623, 2001.
    • (2001) Isr Med Assoc J , vol.3 , Issue.8 , pp. 623
    • Dweck, A.1
  • 39
    • 0033838926 scopus 로고    scopus 로고
    • Huge subcapsular splenic hematoma in a patient with Gaucher disease
    • Aharoni, D., Hadas-Halpern, I., Elstein, D., and Zimran, A. Huge subcapsular splenic hematoma in a patient with Gaucher disease, Isr Med Assoc J, 2(1), 61, 2000.
    • (2000) Isr Med Assoc J , vol.2 , Issue.1 , pp. 61
    • Aharoni, D.1    Hadas-Halpern, I.2    Elstein, D.3    Zimran, A.4
  • 40
    • 0141532984 scopus 로고    scopus 로고
    • Gaucher disease and brucella: Just a mere coincidence?
    • Turfaner E. et al., Gaucher disease and brucella: just a mere coincidence? Genet Couns, 14, 363, 2003.
    • (2003) Genet Couns , vol.14 , pp. 363
    • Turfaner, E.1
  • 41
    • 0034906384 scopus 로고    scopus 로고
    • Littoral cell angioma of the spleen in a patient with Gaucher disease
    • Gupta, M.K. et al., Littoral cell angioma of the spleen in a patient with Gaucher disease, Am J Hematol, 68, 61, 2001.
    • (2001) Am J Hematol , vol.68 , pp. 61
    • Gupta, M.K.1
  • 42
    • 0030317958 scopus 로고    scopus 로고
    • Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome
    • Dawson, A. et al., Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome, Ann Intern Med, 125(11), 901, 1996.
    • (1996) Ann Intern Med , vol.125 , Issue.11 , pp. 901
    • Dawson, A.1
  • 44
    • 0034035946 scopus 로고    scopus 로고
    • Massive hepatic fibrosis in Gaucher’s disease: Clinico-pathological and radiological features
    • Lachmann, R.H. et al., Massive hepatic fibrosis in Gaucher’s disease: clinico-pathological and radiological features, QJM, 93(4), 237, 2000.
    • (2000) QJM , vol.93 , Issue.4 , pp. 237
    • Lachmann, R.H.1
  • 45
    • 20344377629 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in type 1 Gaucher disease: A case report with review of the literature
    • Xu, R. et al., Hepatocellular carcinoma in type 1 Gaucher disease: a case report with review of the literature, Semin Liver Dis, 25(2), 226, 2005.
    • (2005) Semin Liver Dis , vol.25 , Issue.2 , pp. 226
    • Xu, R.1
  • 46
    • 84892854234 scopus 로고    scopus 로고
    • Increased incidence of cancer in adult Gaucher disease in Western Europe
    • Oct, (Epub ahead of print)
    • de Fost, M. et al., Increased incidence of cancer in adult Gaucher disease in Western Europe, Blood Cells Mol Dis, Oct. 2005 (Epub ahead of print).
    • (2005) Blood Cells Mol Dis
    • De Fost, M.1
  • 47
    • 0036735328 scopus 로고    scopus 로고
    • Multiple hypoechoic hepatic lesions in a patient with Gaucher disease
    • Patlas, M. et al., Multiple hypoechoic hepatic lesions in a patient with Gaucher disease, J Ultrasound Med, 21(9), 1053, 2002.
    • (2002) J Ultrasound Med , vol.21 , Issue.9 , pp. 1053
    • Patlas, M.1
  • 49
    • 0036115728 scopus 로고    scopus 로고
    • Cholelithiasis in patients with Gaucher disease
    • Rosenbaum, H. and Sidransky, E., Cholelithiasis in patients with Gaucher disease, Blood Cells Mol Dis, 28(1), 21, 2002.
    • (2002) Blood Cells Mol Dis , vol.28 , Issue.1 , pp. 21
    • Rosenbaum, H.1    Sidransky, E.2
  • 50
    • 3242704022 scopus 로고    scopus 로고
    • Increased prevalence of cholelithiasis in Gaucher disease association with splenectomoy but not with gilbert syndrome
    • Ben Harosh-Katz, M. et al., Increased prevalence of cholelithiasis in Gaucher disease association with splenectomoy but not with gilbert syndrome, J Clin Gastro 38(7), 586, 2004.
    • (2004) J Clin Gastro , vol.38 , Issue.7 , pp. 586
    • Ben Harosh-Katz, M.1
  • 51
    • 24644466574 scopus 로고    scopus 로고
    • Survey of hematological aspects of Gaucher disease
    • Zimran, A. et al., Survey of hematological aspects of Gaucher disease, Hematology, 10, 151, 2005.
    • (2005) Hematology , vol.10 , pp. 151
    • Zimran, A.1
  • 52
    • 0035669202 scopus 로고    scopus 로고
    • High prevalence of low serum vitamin B12 in a multi-ethnic Israeli population
    • Gielchinsky, Y. et al., High prevalence of low serum vitamin B12 in a multi-ethnic Israeli population, Br J Haematol, 115(3), 707, 2001.
    • (2001) Br J Haematol , vol.115 , Issue.3 , pp. 707
    • Gielchinsky, Y.1
  • 53
    • 0032977820 scopus 로고    scopus 로고
    • Platelet function abnormalities in Gaucher disease patients
    • Gillis, S. et al., Platelet function abnormalities in Gaucher disease patients, Am J Hematol, 61, 103, 1999.
    • (1999) Am J Hematol , vol.61 , pp. 103
    • Gillis, S.1
  • 54
    • 0027204822 scopus 로고
    • Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy
    • Zimran, A. et al., Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy, Am J Hematol, 43, 69, 1993.
    • (1993) Am J Hematol , vol.43 , pp. 69
    • Zimran, A.1
  • 55
    • 11144354236 scopus 로고    scopus 로고
    • Rheological determinants in patients with Gaucher disease and internal inflammation
    • Zimran, A. et al., Rheological determinants in patients with Gaucher disease and internal inflammation, Am J Hematol., 75, 190, 2004.
    • (2004) Am J Hematol , vol.75 , pp. 190
    • Zimran, A.1
  • 56
    • 23844439606 scopus 로고    scopus 로고
    • Haemorheology in Gaucher disease
    • Bax, B.E. et al., Haemorheology in Gaucher disease, Eur J Haematol, 75(3), 252, 2005.
    • (2005) Eur J Haematol , vol.75 , Issue.3 , pp. 252
    • Bax, B.E.1
  • 57
    • 0036073124 scopus 로고    scopus 로고
    • Bone complications in children with Gaucher disease
    • Bembi, B. et al., Bone complications in children with Gaucher disease, Br J Radiol, 75(Suppl 1), A37, 2002.
    • (2002) Br J Radiol , vol.75 , pp. A37
    • Bembi, B.1
  • 58
    • 0031440938 scopus 로고    scopus 로고
    • Gaucher disease: Assessment of skeletal involvement and therapeutic responses to enzyme replacement
    • Hermann, G., Pastores, G.M., Abdelwahab, I.F., and Lorberboym, A.M., Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement., Skeletal Radiol, 26, 687, 1997.
    • (1997) Skeletal Radiol , vol.26 , pp. 687
    • Hermann, G.1    Pastores, G.M.2    Abdelwahab, I.F.3    Lorberboym, A.M.4
  • 59
    • 0029910836 scopus 로고    scopus 로고
    • Bone density in Type 1 Gaucher disease
    • Pastores, G.M. et al., Bone density in Type 1 Gaucher disease, J Bone Miner Res, 11, 1801, 1996.
    • (1996) J Bone Miner Res , vol.11 , pp. 1801
    • Pastores, G.M.1
  • 60
    • 4444328072 scopus 로고    scopus 로고
    • Gaucher disease: Alendronate disodium improves bone mineral density in adults receiving enzyme therapy
    • Wenstrup, R.J. et al., Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy, Blood, 104(5), 1253, 2004.
    • (2004) Blood , vol.104 , Issue.5 , pp. 1253
    • Wenstrup, R.J.1
  • 61
    • 0141459216 scopus 로고    scopus 로고
    • Iliopsoas hematoma in a young patient with type I Gaucher disease
    • Jmoudiak, M. et al., Iliopsoas hematoma in a young patient with type I Gaucher disease, Isr Med Assoc J, 5(9), 673, 2003.
    • (2003) Isr Med Assoc J , vol.5 , Issue.9 , pp. 673
    • Jmoudiak, M.1
  • 62
    • 10944264657 scopus 로고    scopus 로고
    • Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy
    • Itzchaki, M. et al., Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy, Acta Orthop Scand, 75(6), 641, 2004.
    • (2004) Acta Orthop Scand , vol.75 , Issue.6 , pp. 641
    • Itzchaki, M.1
  • 63
    • 0030046308 scopus 로고    scopus 로고
    • Pulmonary function abnormalities in type I Gaucher disease
    • Kerem, E. et al., Pulmonary function abnormalities in type I Gaucher disease, Eur Respir J, 9(2), 340, 1996.
    • (1996) Eur Respir J , vol.9 , Issue.2 , pp. 340
    • Kerem, E.1
  • 64
    • 0043133696 scopus 로고    scopus 로고
    • Pulmonary involvement in type 1 Gaucher disease: Functional and exercise findings in patients with and without clinical interstitial lung disease
    • Miller, A., Brown, L.K., Pastores, G.M., and Desnick, R.J., Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease, Clin Genet, 63(5), 368, 2003.
    • (2003) Clin Genet , vol.63 , Issue.5 , pp. 368
    • Miller, A.1    Brown, L.K.2    Pastores, G.M.3    Desnick, R.J.4
  • 65
    • 0036399154 scopus 로고    scopus 로고
    • Pulmonary hypertension in type 1 Gaucher’s disease: Genetic and epigenetic determinants of phenotype and response to therapy
    • Mistry, P.K. et al., Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy, Mol Genet Metab, 77(1-2), 91, 2002.
    • (2002) Mol Genet Metab , vol.77 , Issue.1-2 , pp. 91
    • Mistry, P.K.1
  • 66
    • 0031929792 scopus 로고    scopus 로고
    • Pulmonary involvement of Gaucher’s disease in children: A common presentation in Saudi Arabia
    • Banjar, H., Pulmonary involvement of Gaucher’s disease in children: a common presentation in Saudi Arabia, Ann Trop Paediatr, 18(1), 55, 1998.
    • (1998) Ann Trop Paediatr , vol.18 , Issue.1 , pp. 55
    • Banjar, H.1
  • 67
    • 0034892109 scopus 로고    scopus 로고
    • Lung involvement and enzyme replacement therapy in Gaucher’s disease
    • Goitein, O. et al., Lung involvement and enzyme replacement therapy in Gaucher’s disease, Qjm, 94(8), 407, 2001.
    • (2001) Qjm , vol.94 , Issue.8 , pp. 407
    • Goitein, O.1
  • 68
    • 0032999790 scopus 로고    scopus 로고
    • Pulmonary pathology in Gaucher’s disease
    • Amir, G and Ron N., Pulmonary pathology in Gaucher’s disease, Hum Pathol, 30, 666-70, 1999.
    • (1999) Hum Pathol , vol.30 , pp. 666-670
    • Amir, G.1    Ron, N.2
  • 69
    • 17944398567 scopus 로고    scopus 로고
    • Echocardiographic assessment of pulmonary hypertension in Gaucher’s disease
    • Elstein, D. et al., Echocardiographic assessment of pulmonary hypertension in Gaucher’s disease, Lancet, 351(9115), 1544, 1998.
    • (1998) Lancet , vol.351 , Issue.9115 , pp. 1544
    • Elstein, D.1
  • 70
    • 0034035946 scopus 로고    scopus 로고
    • Massive hepatic fibrosis in Gaucher’s disease: Clinico-pathological and radiological features
    • Lachmann, R.H. et al., Massive hepatic fibrosis in Gaucher’s disease: clinico-pathological and radiological features, QJM, 93(4), 237, 2000.
    • (2000) QJM , vol.93 , Issue.4 , pp. 237
    • Lachmann, R.H.1
  • 71
    • 0033574148 scopus 로고    scopus 로고
    • Pulmonary hypertension after splenectomy?
    • Hoeper, M.M. et al., Pulmonary hypertension after splenectomy? Ann Intern Med, 130(6), 506, 1999.
    • (1999) Ann Intern Med , vol.130 , Issue.6 , pp. 506
    • Hoeper, M.M.1
  • 72
    • 27144540405 scopus 로고    scopus 로고
    • A comprehensive assessment of renal function in patients with Gaucher disease
    • Becker-Cohen, R. et al., A comprehensive assessment of renal function in patients with Gaucher disease, Am J Kidney Dis, 46(5), 837, 2005.
    • (2005) Am J Kidney Dis , vol.46 , Issue.5 , pp. 837
    • Becker-Cohen, R.1
  • 73
    • 0027277054 scopus 로고
    • Increased risk of cancer in patients with Gaucher disease
    • Shiran, A., Brenner, B., Laor, A., and Tatarsky, I., Increased risk of cancer in patients with Gaucher disease, Cancer, 72, 219, 1993.
    • (1993) Cancer , vol.72 , pp. 219
    • Shiran, A.1    Brenner, B.2    Laor, A.3    Tatarsky, I.4
  • 74
    • 18844388455 scopus 로고    scopus 로고
    • Gaucher disease and cancer incidence: A study from the Gaucher Registry
    • Rosenbloom, B.E. et al., Gaucher disease and cancer incidence: a study from the Gaucher Registry, Blood, 105(12), 4569, 2005.
    • (2005) Blood , vol.105 , Issue.12 , pp. 4569
    • Rosenbloom, B.E.1
  • 75
    • 18844449947 scopus 로고    scopus 로고
    • Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
    • Zimran, A. et al., Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic, Blood Cells Mol Dis, 34(3), 197, 2005.
    • (2005) Blood Cells Mol Dis , vol.34 , Issue.3 , pp. 197
    • Zimran, A.1
  • 76
    • 84892854234 scopus 로고    scopus 로고
    • Increased incidence of cancer in adult Gaucher disease in Western Europe
    • de Fost, M. et al., Increased incidence of cancer in adult Gaucher disease in Western Europe, Blood Cells Mol Dis, 2005.
    • (2005) Blood Cells Mol Dis
    • De Fost, M.1
  • 77
    • 0028964129 scopus 로고
    • Gynecologic and obstetric aspects of Gaucher’s disease: A survey of 53 patients
    • Granovsky-Grisaru, S. et al., Gynecologic and obstetric aspects of Gaucher’s disease: a survey of 53 patients, Am J Obstet Gynecol, 172(4 Pt 1), 1284, 1995.
    • (1995) Am J Obstet Gynecol , vol.172 , Issue.4 , pp. 1284
    • Granovsky-Grisaru, S.1
  • 78
    • 1342281753 scopus 로고    scopus 로고
    • Pregnancies in Gaucher disease: A 5-year study
    • Elstein, Y. et al., Pregnancies in Gaucher disease: a 5-year study, Am J Obstet Gynecol. 190, 435, 2004.
    • (2004) Am J Obstet Gynecol , vol.190 , pp. 435
    • Elstein, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.