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Volumn 26, Issue 12, 1997, Pages 687-696

Gaucher disease: Assessment of skeletal involvement and therapeutic responses to enzyme replacement

Author keywords

Gaucher disease type 1; Imaging CT; MRI, Gaucher disease; Skeletal changes, Gaucher disease

Indexed keywords

ALGLUCERASE; BISPHOSPHONIC ACID DERIVATIVE; IMIGLUCERASE; PAMIDRONIC ACID; RADIOISOTOPE; SULFUR;

EID: 0031440938     PISSN: 03642348     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002560050313     Document Type: Review
Times cited : (60)

References (55)
  • 1
    • 0027302227 scopus 로고
    • Gaucher disease
    • Grabowski GA. Gaucher disease. Adv Hum Genet 1993; 21: 377-441.
    • (1993) Adv Hum Genet , vol.21 , pp. 377-441
    • Grabowski, G.A.1
  • 2
    • 0026419337 scopus 로고
    • Gaucher's disease
    • Beutler E. Gaucher's disease (review article). N Engl J Med 1991; 325: 1354-1360.
    • (1991) N Engl J Med , vol.325 , pp. 1354-1360
    • Beutler, E.1
  • 4
    • 0002640157 scopus 로고
    • Glucosylceramide lipidosis: Gaucher disease
    • Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) New York: McGraw-Hill
    • Brady RO, Barranger JA. Glucosylceramide lipidosis: Gaucher disease. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic case basis of inherited disease. New York: McGraw-Hill, 1983: 842-856.
    • (1983) The Metabolic Case Basis of Inherited Disease , pp. 842-856
    • Brady, R.O.1    Barranger, J.A.2
  • 5
    • 0020395473 scopus 로고
    • Gaucher disease (1882-1982): Centennial perspective on the most prevalent Jewish genetic disease
    • Desnick RJ. Gaucher disease (1882-1982): centennial perspective on the most prevalent Jewish genetic disease. Mt Sinai J Med 1982; 49: 443-455.
    • (1982) Mt Sinai J Med , vol.49 , pp. 443-455
    • Desnick, R.J.1
  • 7
    • 0007859644 scopus 로고
    • Gaucher disease: Clinical and roentgenologic manifestations
    • Levin B. Gaucher disease: clinical and roentgenologic manifestations. AJR 1961; 85: 685.
    • (1961) AJR , vol.85 , pp. 685
    • Levin, B.1
  • 8
    • 2642640234 scopus 로고
    • Gaucher disease
    • Taveras JM, Ferrucci JT (eds) Philadelphia: Lippincott
    • Hermann G. Gaucher disease. In: Taveras JM, Ferrucci JT (eds) Radiology: diagnosis-imaging-intervention, vol 5. Philadelphia: Lippincott, 1986: 64, 1-9.
    • (1986) Radiology: Diagnosis-imaging-intervention, Vol 5 , vol.64 , pp. 1-9
    • Hermann, G.1
  • 9
    • 0023008964 scopus 로고
    • Gaucher's disease associated with chronic lymphocytic leukemia
    • Kaufman S, Rosenfield V, Yona R, Varon M. Gaucher's disease associated with chronic lymphocytic leukemia. Clin Lab Haematol 1986; 8: 321.
    • (1986) Clin Lab Haematol , vol.8 , pp. 321
    • Kaufman, S.1    Rosenfield, V.2    Yona, R.3    Varon, M.4
  • 11
    • 0029060711 scopus 로고
    • Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease
    • Pirs MR, Mankin HI, Ramvuk XJ, Rosenthal DI, Dickerson RG, Rosenberg AE. Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. J Bone Joint Surg Am 1995; 77: 777-778.
    • (1995) J Bone Joint Surg Am , vol.77 , pp. 777-778
    • Pirs, M.R.1    Mankin, H.I.2    Ramvuk, X.J.3    Rosenthal, D.I.4    Dickerson, R.G.5    Rosenberg, A.E.6
  • 12
    • 0030858505 scopus 로고    scopus 로고
    • Hematologically important mutations: Gaucher disease
    • Beutler E. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 1997; 23(1): 2-7.
    • (1997) Blood Cells Mol Dis , vol.23 , Issue.1 , pp. 2-7
    • Beutler, E.1
  • 13
    • 0026591232 scopus 로고
    • Gaucher disease: New molecular approaches to diagnosis and treatment
    • Beutler E. Gaucher disease: new molecular approaches to diagnosis and treatment. Science 1992; 256: 794-799.
    • (1992) Science , vol.256 , pp. 794-799
    • Beutler, E.1
  • 14
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease Type I: Clinical and therapeutic implications
    • Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease Type I: clinical and therapeutic implications. Am J Hum Genet 1993; 52: 1094-1101.
    • (1993) Am J Hum Genet , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.J.3    Pastores, G.4    Grabowski, G.A.5
  • 15
    • 2642707314 scopus 로고
    • Gene mapping and leader polypeptide sequence of human glycocerebrosidase: Implications for Gaucher disease
    • Ginns EL, Choudhary PV, Tsuji S, et al. Gene mapping and leader polypeptide sequence of human glycocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci USA 1982; 82: 7101-7105.
    • (1982) Proc Natl Acad Sci USA , vol.82 , pp. 7101-7105
    • Ginns, E.L.1    Choudhary, P.V.2    Tsuji, S.3
  • 16
    • 0028158094 scopus 로고
    • DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype?
    • Sidransky E, Bottler A, Stubblefield B, Ginns EI. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat 1994; 3: 25-28.
    • (1994) Hum Mutat , vol.3 , pp. 25-28
    • Sidransky, E.1    Bottler, A.2    Stubblefield, B.3    Ginns, E.I.4
  • 17
    • 0020021940 scopus 로고
    • Bone involvement in Gaucher disease
    • Desnick RJ, Gatt S, Grabowski GA (eds) New York: AR Liss
    • Beighton P, Goldblatt J, Sacks S. Bone involvement in Gaucher disease. In: Desnick RJ, Gatt S, Grabowski GA (eds) Gaucher disease: a century of delineation. New York: AR Liss, 1982: 107-129.
    • (1982) Gaucher Disease: A Century of Delineation , pp. 107-129
    • Beighton, P.1    Goldblatt, J.2    Sacks, S.3
  • 18
    • 0019823526 scopus 로고
    • Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures
    • Gery I, Zigler JS, Brady RO, Barrenger JA. Selective effects of glucocerebroside (Gaucher's storage material) on macrophage cultures. J Clin Invest 1981; 68: 1182-1189.
    • (1981) J Clin Invest , vol.68 , pp. 1182-1189
    • Gery, I.1    Zigler, J.S.2    Brady, R.O.3    Barrenger, J.A.4
  • 24
    • 0027279191 scopus 로고
    • MR imaging in adults with Gaucher disease type I: Evaluation of marrow involvement and disease activity
    • Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G. MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 1993; 22: 247-251.
    • (1993) Skeletal Radiol , vol.22 , pp. 247-251
    • Hermann, G.1    Shapiro, R.S.2    Abdelwahab, I.F.3    Grabowski, G.4
  • 25
    • 0029161661 scopus 로고
    • Skeletal complications of Gaucher disease: Pathophysiology, evaluation and treatment
    • Pastores GM, Einhorn TA. Skeletal complications of Gaucher disease: pathophysiology, evaluation and treatment. Semin Hematol 1995; 32 [Suppl 1]: 20-27.
    • (1995) Semin Hematol , vol.32 , Issue.1 SUPPL. , pp. 20-27
    • Pastores, G.M.1    Einhorn, T.A.2
  • 26
    • 0001555092 scopus 로고
    • Metabolic bone disease in patients with Gaucher disease
    • Avioli LV, Krane SM (eds) Philadelphia: WB Saunders
    • Mankin HJ, Doppelt SH, Rosenberg AE, Barranger JA. Metabolic bone disease in patients with Gaucher disease. In: Avioli LV, Krane SM (eds) Metabolic bone disease, 2nd edn. Philadelphia: WB Saunders, 1990: 730-752.
    • (1990) Metabolic Bone Disease, 2nd Edn. , pp. 730-752
    • Mankin, H.J.1    Doppelt, S.H.2    Rosenberg, A.E.3    Barranger, J.A.4
  • 27
    • 0014086506 scopus 로고
    • Osteoarticular manifestations of Gaucher's disease
    • Silverstein MN, Kelly PJ. Osteoarticular manifestations of Gaucher's disease. Am J Med Sci 1967; 253: 569.
    • (1967) Am J Med Sci , vol.253 , pp. 569
    • Silverstein, M.N.1    Kelly, P.J.2
  • 28
    • 2642640235 scopus 로고
    • Roentgenologische Skelettveränderungen bei Morbus Gaucher
    • Junghagen S. Roentgenologische Skelettveränderungen bei Morbus Gaucher. Acta Radiol 1926; 5: 506.
    • (1926) Acta Radiol , vol.5 , pp. 506
    • Junghagen, S.1
  • 29
    • 2642638543 scopus 로고
    • Skeletal manifestations of Gaucher disease with some unusual findings
    • Strickland B. Skeletal manifestations of Gaucher disease with some unusual findings. Br J Radiol 1958; 31: 246.
    • (1958) Br J Radiol , vol.31 , pp. 246
    • Strickland, B.1
  • 32
    • 0018317809 scopus 로고
    • Step off vertebral body. Gaucher disease versus sickle cell hemoglobinopathy
    • Schwartz AM, Homer MJ, McCauley RGK. Step off vertebral body. Gaucher disease versus sickle cell hemoglobinopathy. AJR 1979; 132: 81-83.
    • (1979) AJR , vol.132 , pp. 81-83
    • Schwartz, A.M.1    Homer, M.J.2    McCauley, R.G.K.3
  • 34
    • 0021485499 scopus 로고
    • Kimmel disease: Delayed collapse of the traumatized spine in a patient with Gaucher, Type I disease
    • Hermann G, Goldblatt J, Desnick RJ. Kimmel disease: delayed collapse of the traumatized spine in a patient with Gaucher, Type I disease. Br J Radiol 1984; 57: 833-835.
    • (1984) Br J Radiol , vol.57 , pp. 833-835
    • Hermann, G.1    Goldblatt, J.2    Desnick, R.J.3
  • 35
    • 0022496920 scopus 로고
    • Gaucher's disease: Assessment with MRI
    • Lanir A, Hadar H, Cohen I, et al. Gaucher's disease: assessment with MRI. Radiology 1986; 161: 239-244.
    • (1986) Radiology , vol.161 , pp. 239-244
    • Lanir, A.1    Hadar, H.2    Cohen, I.3
  • 36
    • 0025896554 scopus 로고
    • Bone scan in the diagnosis of bone crisis in patients who have Gaucher disease
    • Katz K, Machlis-Frish S, Cohen IJ, et al. Bone scan in the diagnosis of bone crisis in patients who have Gaucher disease. J Bone Joint Surg Am 1991; 73: 513.
    • (1991) J Bone Joint Surg Am , vol.73 , pp. 513
    • Katz, K.1    Machlis-Frish, S.2    Cohen, I.J.3
  • 37
    • 0026576419 scopus 로고
    • Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease
    • Bilchik TR, Heyman S. Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease. Clin Nucl Med 1982; 17: 279.
    • (1982) Clin Nucl Med , vol.17 , pp. 279
    • Bilchik, T.R.1    Heyman, S.2
  • 38
    • 0030967663 scopus 로고    scopus 로고
    • Scintigraphic monitoring of patients with Type 1 Gaucher disease on enzyme replacement therapy
    • in press
    • Lorberboym M, Pastores G, Kim CK, Hermann G, Glajchen N, Machac J. Scintigraphic monitoring of patients with Type 1 Gaucher disease on enzyme replacement therapy. J Nucl Med 1997 (in press).
    • (1997) J Nucl Med
    • Lorberboym, M.1    Pastores, G.2    Kim, C.K.3    Hermann, G.4    Glajchen, N.5    Machac, J.6
  • 40
    • 0024569981 scopus 로고
    • Bone and bone marrow changes in Gaucher disease: Evaluation with quantitative CT
    • Rosenthal DI, Mayo-Smith W, Goodsitt MM, Doppelt S, Mankin HJ. Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT. Radiology 1989; 170: 143-146.
    • (1989) Radiology , vol.170 , pp. 143-146
    • Rosenthal, D.I.1    Mayo-Smith, W.2    Goodsitt, M.M.3    Doppelt, S.4    Mankin, H.J.5
  • 41
    • 0023627965 scopus 로고
    • Regression of the radiological changes of Gaucher's disease following bone marrow transplantation
    • Starer F, Sargent JD, Hobbs JR. Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol 1987; 60: 1189-1195.
    • (1987) Br J Radiol , vol.60 , pp. 1189-1195
    • Starer, F.1    Sargent, J.D.2    Hobbs, J.R.3
  • 42
    • 0343028863 scopus 로고
    • Lipidoses, histiocytoses, and hyperlipoproteinemias
    • Philadelphia: WB Saunders
    • Resnick D. Lipidoses, histiocytoses, and hyperlipoproteinemias. In: Diagnosis of bone and joint disorders, 3rd edn. Philadelphia: WB Saunders, 1995: 2191-2203.
    • (1995) Diagnosis of Bone and Joint Disorders, 3rd Edn. , pp. 2191-2203
    • Resnick, D.1
  • 43
    • 0029121363 scopus 로고
    • MR imaging of patients with Type I Gaucher's disease: Relationships between bone and visceral changes
    • Terk MR, Esplin J, Lee K, Magre G, Colletti PM. MR imaging of patients with Type I Gaucher's disease: relationships between bone and visceral changes. AJR 1995; 165: 599-604.
    • (1995) AJR , vol.165 , pp. 599-604
    • Terk, M.R.1    Esplin, J.2    Lee, K.3    Magre, G.4    Colletti, P.M.5
  • 45
    • 0025918416 scopus 로고
    • Hemorrhage associated with "bone crisis" in Gaucher's disease identified by magnetic resonance imaging
    • Horev G, Konreich L, Hadan H, Katz K. Hemorrhage associated with "bone crisis" in Gaucher's disease identified by magnetic resonance imaging. Skeletal Radiol 1991; 20: 479-482.
    • (1991) Skeletal Radiol , vol.20 , pp. 479-482
    • Horev, G.1    Konreich, L.2    Hadan, H.3    Katz, K.4
  • 46
    • 0025322367 scopus 로고
    • Rapidly progressive type III Gaucher disease: Deterioration following partial splenectomy
    • Kyllerman M, Conradi N, Mansson JE, Percy AK, Svennerholm L. Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy. Acta Paediatr 1990; 79: 448-453.
    • (1990) Acta Paediatr , vol.79 , pp. 448-453
    • Kyllerman, M.1    Conradi, N.2    Mansson, J.E.3    Percy, A.K.4    Svennerholm, L.5
  • 47
    • 0022647117 scopus 로고
    • Effect of splenectomy on destructive bone changes in children with chronic (type 1) Gaucher's disease
    • Ashkenazi A, Zaizov R, Matosh Y. Effect of splenectomy on destructive bone changes in children with chronic (type 1) Gaucher's disease. Eur J Pediatr 1986; 145: 138-141.
    • (1986) Eur J Pediatr , vol.145 , pp. 138-141
    • Ashkenazi, A.1    Zaizov, R.2    Matosh, Y.3
  • 48
    • 0018243182 scopus 로고
    • The orthopedic aspect of Gaucher's disease
    • Goldblatt J, Sachs S, Beighton P. The orthopedic aspect of Gaucher's disease. Clin Orthop 1978; 137: 208.
    • (1978) Clin Orthop , vol.137 , pp. 208
    • Goldblatt, J.1    Sachs, S.2    Beighton, P.3
  • 49
    • 0007766712 scopus 로고
    • Spinal compression secondary to Gaucher's disease: Case report
    • Raynor RB. Spinal compression secondary to Gaucher's disease: case report. J Neurosurg 1962; 19: 902.
    • (1962) J Neurosurg , vol.19 , pp. 902
    • Raynor, R.B.1
  • 50
    • 0027218354 scopus 로고
    • Enzyme therapy in Gaucher disease type 1: Dosage efficacy and adverse effect in 33 patients treated for 6 to 24 months
    • Pastores GM, Sibille AR, Grabowski GA. Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effect in 33 patients treated for 6 to 24 months. Blood 1993; 82: 408-416.
    • (1993) Blood , vol.82 , pp. 408-416
    • Pastores, G.M.1    Sibille, A.R.2    Grabowski, G.A.3
  • 53
    • 0029165086 scopus 로고
    • Resolution of a proximal humeral defect in Type I Gaucher disease by enzyme replacement therapy
    • Pastores GM, Hermann G, Norton K, Desnick RJ. Resolution of a proximal humeral defect in Type I Gaucher disease by enzyme replacement therapy. Pediatr Radiol 1995; 25: 486-487.
    • (1995) Pediatr Radiol , vol.25 , pp. 486-487
    • Pastores, G.M.1    Hermann, G.2    Norton, K.3    Desnick, R.J.4
  • 54
    • 0029886808 scopus 로고    scopus 로고
    • Regression of skeletal changes in Type I Gaucher disease with enzyme replacement therapy
    • Pastores GM, Hermann G, Norton KI, Lorberboym M, Desnick RJ. Regression of skeletal changes in Type I Gaucher disease with enzyme replacement therapy. Skeletal Radiol 1996; 25: 485-488.
    • (1996) Skeletal Radiol , vol.25 , pp. 485-488
    • Pastores, G.M.1    Hermann, G.2    Norton, K.I.3    Lorberboym, M.4    Desnick, R.J.5
  • 55
    • 0029155493 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
    • Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusnick KA, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 1996; 96: 629-637.
    • (1996) Pediatrics , vol.96 , pp. 629-637
    • Rosenthal, D.I.1    Doppelt, S.H.2    Mankin, H.J.3    Dambrosia, J.M.4    Xavier, R.J.5    McKusnick, K.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.