메뉴 건너뛰기




Volumn 39, Issue 8, 2013, Pages 928-934

Hypercoagulability, parkinsonism, and gaucher disease

Author keywords

Gaucher disease; glucocerebrosidase; hypercoagulability; parkinsonism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALPHA 2 ANTIPLASMIN; ALPHA SYNUCLEIN; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 9; D DIMER; ENDOTHELIAL LEUKOCYTE ADHESION MOLECULE 1; GLUCOSYLCERAMIDASE; PLASMIN; PROTEIN KINASE C; PROTEIN S; PROTHROMBIN;

EID: 84887022358     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0033-1357485     Document Type: Article
Times cited : (12)

References (86)
  • 1
    • 0027302227 scopus 로고
    • Gaucher disease. Enzymology, genetics, and treatment
    • Grabowski G. A. Gaucher disease. Enzymology, genetics, and treatment. Adv Hum Genet: 1993; 21 377 441
    • (1993) Adv Hum Genet , vol.21 , pp. 377-441
    • Grabowski, G.A.1
  • 2
    • 0014575787 scopus 로고
    • The morphogenesis of Gaucher cells investigated by electron microscopy
    • Pennelli N., Scaravilli F., Zacchello F. The morphogenesis of Gaucher cells investigated by electron microscopy. Blood: 1969; 34 3 331 347
    • (1969) Blood , vol.34 , Issue.3 , pp. 331-347
    • Pennelli, N.1    Scaravilli, F.2    Zacchello, F.3
  • 3
    • 0031308388 scopus 로고    scopus 로고
    • Gaucher's disease. Pathological features
    • Pastores G. M. Gaucher's disease. Pathological features. Baillieres Clin Haematol: 1997; 10 4 739 749
    • (1997) Baillieres Clin Haematol , vol.10 , Issue.4 , pp. 739-749
    • Pastores, G.M.1
  • 4
    • 84871961748 scopus 로고    scopus 로고
    • Haematological manifestations and complications of Gaucher disease
    • Hughes D. A., Pastores G. M. Haematological manifestations and complications of Gaucher disease. Curr Opin Hematol: 2013; 20 1 41 47
    • (2013) Curr Opin Hematol , vol.20 , Issue.1 , pp. 41-47
    • Hughes, D.A.1    Pastores, G.M.2
  • 6
    • 0021846002 scopus 로고
    • Gaucher's disease: A case history with extensive lipid storage in the brain
    • Leech R. W., Shuman R. M., Putnam W. D., Rance F., Jewett T. T. Gaucher's disease: a case history with extensive lipid storage in the brain. Am J Clin Pathol: 1985; 83 4 516 519 (Pubitemid 15083924)
    • (1985) American Journal of Clinical Pathology , vol.83 , Issue.4 , pp. 516-519
    • Leech, R.W.1    Shuman, R.M.2    Putnam, W.D.3
  • 7
    • 0032928743 scopus 로고    scopus 로고
    • Technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease
    • Lin D. S., Lin S. P., Liang D. C., Ho C. S., Wu M. C. Technetium-99m-HmPAO brain SPECT in infantile Gaucher's disease. Pediatr Neurol: 1999; 20 1 66 69
    • (1999) Pediatr Neurol , vol.20 , Issue.1 , pp. 66-69
    • Lin, D.S.1    Lin, S.P.2    Liang, D.C.3    Ho, C.S.4    Wu, M.C.5
  • 8
    • 0036387220 scopus 로고    scopus 로고
    • Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype
    • et al.
    • Orvisky E., Park J. K., LaMarca M. E., et al. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab: 2002; 76 4 262 270
    • (2002) Mol Genet Metab , vol.76 , Issue.4 , pp. 262-270
    • Orvisky, E.1    Park, J.K.2    Lamarca, M.E.3
  • 9
    • 0014283820 scopus 로고
    • Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases
    • Pratt P. W., Kochwa S., Estren S. Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases. Blood: 1968; 31 5 633 640
    • (1968) Blood , vol.31 , Issue.5 , pp. 633-640
    • Pratt, P.W.1    Kochwa, S.2    Estren, S.3
  • 12
    • 34347394965 scopus 로고    scopus 로고
    • Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy
    • DOI 10.1097/MPH.0b013e31806451d3, PII 0004342620070700000004
    • Wine E., Yaniv I., Cohen I. J. Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy. J Pediatr Hematol Oncol: 2007; 29 7 451 457 (Pubitemid 47026246)
    • (2007) Journal of Pediatric Hematology/Oncology , vol.29 , Issue.7 , pp. 451-457
    • Wine, E.1    Yaniv, I.2    Cohen, I.J.3
  • 14
  • 15
    • 84887021010 scopus 로고    scopus 로고
    • Immune thrombocytopenia in type i Gaucher disease
    • Rosenbaum H., Napso T., Bonstein L. Immune thrombocytopenia in type I Gaucher disease. Blood: 2007; 110 11 3200a
    • (2007) Blood , vol.110 , Issue.11
    • Rosenbaum, H.1    Napso, T.2    Bonstein, L.3
  • 16
    • 0025181386 scopus 로고
    • Autoimmune hemolytic anemia in Gaucher's disease
    • DOI 10.1007/BF01646850
    • Haratz D., Manny N., Raz I. Autoimmune hemolytic anemia in Gaucher's disease. Klin Wochenschr: 1990; 68 2 94 95 (Pubitemid 20044359)
    • (1990) Klinische Wochenschrift , vol.68 , Issue.2 , pp. 94-95
    • Harats, D.1    Manny, N.2    Raz, I.3
  • 17
    • 0027277054 scopus 로고
    • Increased risk of cancer in patients with Gaucher disease
    • Shiran A., Brenner B., Laor A., Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer: 1993; 72 1 219 224 (Pubitemid 23182076)
    • (1993) Cancer , vol.72 , Issue.1 , pp. 219-224
    • Shiran, A.1    Brenner, B.2    Laor, A.3    Tatarsky, I.4
  • 18
    • 18844388455 scopus 로고    scopus 로고
    • Gaucher disease and cancer incidence: A study from the Gaucher Registry
    • DOI 10.1182/blood-2004-12-4672
    • Rosenbloom B. E., Weinreb N. J., Zimran A., Kacena K. A., Charrow J., Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood: 2005; 105 12 4569 4572 (Pubitemid 40807272)
    • (2005) Blood , vol.105 , Issue.12 , pp. 4569-4572
    • Rosenbloom, B.E.1    Weinreb, N.J.2    Zimran, A.3    Kacena, K.A.4    Charrow, J.5    Ward, E.6
  • 20
    • 18844449947 scopus 로고    scopus 로고
    • Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
    • DOI 10.1016/j.bcmd.2005.03.004, PII S1079979605000331
    • Zimran A., Liphshitz I., Barchana M., Abrahamov A., Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis: 2005; 34 3 197 200 (Pubitemid 40693554)
    • (2005) Blood Cells, Molecules, and Diseases , vol.34 , Issue.3 , pp. 197-200
    • Zimran, A.1    Liphshitz, I.2    Barchana, M.3    Abrahamov, A.4    Elstein, D.5
  • 21
    • 0027499554 scopus 로고
    • Gaucher's disease associated with chronic lymphocytic leukemia
    • Marsh R. D., Killeen R. B. Jr, Agaliotis D. Gaucher's disease associated with chronic lymphocytic leukemia. South Med J: 1993; 86 4 473 475 (Pubitemid 23117252)
    • (1993) Southern Medical Journal , vol.86 , Issue.4 , pp. 473-475
    • Marsh, R.D.W.1    Killeen Jr., R.B.2    Agaliotis, D.3
  • 22
    • 0032466325 scopus 로고    scopus 로고
    • Non-Hodgkin's lymphoma associated with Gaucher's disease
    • Perales M., Cervantes F., Cobo F., Montserrat E. Non-Hodgkin's lymphoma associated with Gaucher's disease. Leuk Lymphoma: 1998; 31 5-6 609 612 (Pubitemid 29050603)
    • (1998) Leukemia and Lymphoma , vol.31 , Issue.5-6 , pp. 609-612
    • Perales, M.1    Cervantes, F.2    Cobo, F.3    Montserrat, E.4
  • 25
    • 0031452699 scopus 로고    scopus 로고
    • Gaucher's disease: Molecular, genetic and enzymological aspects
    • DOI 10.1016/S0950-3536(97)80032-7
    • Grabowski G. A., Horowitz M. Gaucher's disease: molecular, genetic and enzymological aspects. Baillieres Clin Haematol: 1997; 10 4 635 656 (Pubitemid 28022201)
    • (1997) Bailliere's Clinical Haematology , vol.10 , Issue.4 , pp. 635-656
    • Grabowski, G.A.1    Horowitz, M.2
  • 26
    • 84887017957 scopus 로고
    • In: Desnick R.J. Gatt S. Grabowski G.A. eds. Gaucher Disease: A Century of Delineation and Research (Progress in Clinical and Biological Research, Volume 95) New York Alan R. Liss
    • Lee R. E. Pathology of Gaucher disease. In: Desnick R. J., Gatt S., Grabowski G. A., eds. Gaucher Disease: A Century of Delineation and Research (Progress in Clinical and Biological Research, Volume 95). New York Alan R. Liss: 1981
    • (1981) Pathology of Gaucher Disease
    • Lee, R.E.1
  • 27
    • 24644466574 scopus 로고    scopus 로고
    • Survey of hematological aspects of Gaucher disease
    • DOI 10.1080/10245330500067181
    • Zimran A., Altarescu G., Rudensky B., Abrahamov A., Elstein D. Survey of hematological aspects of Gaucher disease. Hematology: 2005; 10 2 151 156 (Pubitemid 41800790)
    • (2005) Hematology , vol.10 , Issue.2 , pp. 151-156
    • Zimran, A.1    Altarescu, G.2    Rudensky, B.3    Abrahamov, A.4    Elstein, D.5
  • 28
    • 82255179519 scopus 로고    scopus 로고
    • Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future
    • Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab: 2011; 104 4 438 447
    • (2011) Mol Genet Metab , vol.104 , Issue.4 , pp. 438-447
    • Goker-Alpan, O.1
  • 29
    • 0026465017 scopus 로고
    • Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
    • et al.
    • Zimran A., Kay A., Gelbart T., et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore): 1992; 71 6 337 353
    • (1992) Medicine (Baltimore) , vol.71 , Issue.6 , pp. 337-353
    • Zimran, A.1    Kay, A.2    Gelbart, T.3
  • 30
    • 0033286018 scopus 로고    scopus 로고
    • Hydrops fetalis: Lysosomal storage disorders in extremis
    • Stone D. L., Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr: 1999; 46 409 440
    • (1999) Adv Pediatr , vol.46 , pp. 409-440
    • Stone, D.L.1    Sidransky, E.2
  • 33
    • 0018185494 scopus 로고
    • Acute neuropathic Gaucher disease in a black infant
    • Forster J., Chambers J. P., Peters S. P., Lee R. E., Glew R. H. Acute neuropathic Gaucher disease in a black infant. J Pediatr: 1978; 93 5 823 824 (Pubitemid 8397478)
    • (1978) Journal of Pediatrics , vol.93 , Issue.5 , pp. 823-824
    • Forster, J.1    Chambers, J.P.2    Peters, S.P.3
  • 34
    • 17344379187 scopus 로고
    • Gaucher's disease in infants with predominant neurological manifestations
    • Jedidi H., Hamza B., Chadly A. [Gaucher's disease in infants with predominant neurological manifestations]. Tunis Med: 1966; 44 2 85 95
    • (1966) Tunis Med , vol.44 , Issue.2 , pp. 85-95
    • Jedidi, H.1    Hamza, B.2    Chadly, A.3
  • 35
    • 0041331590 scopus 로고    scopus 로고
    • Phenotypic continuum in neuronopathic Gaucher disease: An intermediate phenotype between type 2 and type 3
    • DOI 10.1067/S0022-3476(03)00302-0
    • Goker-Alpan O., Schiffmann R., Park J. K., Stubblefield B. K., Tayebi N., Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr: 2003; 143 2 273 276 (Pubitemid 37082966)
    • (2003) Journal of Pediatrics , vol.143 , Issue.2 , pp. 273-276
    • Goker-Alpan, O.1    Schiffmann, R.2    Park, J.K.3    Stubblefield, B.K.4    Tayebi, N.5    Sidransky, E.6
  • 37
    • 0014093356 scopus 로고
    • Fine structure of central nervous system in early infantile Gaucher's disease
    • Adachi M., Wallace B. J., Schneck L., Volk B. W. Fine structure of central nervous system in early infantile Gaucher's disease. Arch Pathol: 1967; 83 6 513 526
    • (1967) Arch Pathol , vol.83 , Issue.6 , pp. 513-526
    • Adachi, M.1    Wallace, B.J.2    Schneck, L.3    Volk, B.W.4
  • 38
    • 0008885171 scopus 로고
    • The neuropathology of infantile Gaucher's disease
    • Lloyd O. C., Norman R. M., Urich H. The neuropathology of infantile Gaucher's disease. J Pathol Bacteriol: 1956; 72 1 121 131
    • (1956) J Pathol Bacteriol , vol.72 , Issue.1 , pp. 121-131
    • Lloyd, O.C.1    Norman, R.M.2    Urich, H.3
  • 39
    • 0030633019 scopus 로고    scopus 로고
    • New perspectives in type 2 Gaucher disease
    • Sidransky E. New perspectives in type 2 Gaucher disease. Adv Pediatr: 1997; 44 73 107
    • (1997) Adv Pediatr , vol.44 , pp. 73-107
    • Sidransky, E.1
  • 40
    • 0002640157 scopus 로고
    • In: Stanbury J.B. Wijngaarden J.B. Frederickson D.S. Goldstein J.L. Brown M.S. eds. The Metabolic Basis of Inherited Disease New York McGraw-Hill
    • Brady R. O., Barranger J. A. Glucosylceramide lipidosis: Gaucher's disease. In: Stanbury J. B., Wijngaarden J. B., Frederickson D. S., Goldstein J. L., Brown M. S., eds. The Metabolic Basis of Inherited Disease. New York McGraw-Hill: 1983; 842 856
    • (1983) Glucosylceramide Lipidosis: Gaucher's Disease , pp. 842-856
    • Brady, R.O.1    Barranger, J.A.2
  • 41
    • 0023138332 scopus 로고
    • Lysosphingolipids inhibit protein kinase C: Implications for the sphingolipidoses
    • Hannun Y. A., Bell R. M. Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses. Science: 1987; 235 4789 670 674 (Pubitemid 17011106)
    • (1987) Science , vol.235 , Issue.4789 , pp. 670-674
    • Hannun, Y.A.1    Bell, R.M.2
  • 42
    • 0031932297 scopus 로고    scopus 로고
    • Twenty five years of the "psychosine hypothesiso": A personal perspective of its history and present status
    • Suzuki K. Twenty five years of the "psychosine hypothesiso": a personal perspective of its history and present status. Neurochem Res: 1998; 23 3 251 259
    • (1998) Neurochem Res , vol.23 , Issue.3 , pp. 251-259
    • Suzuki, K.1
  • 43
    • 4544355311 scopus 로고    scopus 로고
    • Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)
    • DOI 10.1111/j.0013-9580.2004.15904.x
    • Filocamo M., Mazzotti R., Stroppiano M., Grossi S., Dravet C., Guerrini R. Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). Epilepsia: 2004; 45 9 1154 1157 (Pubitemid 39238128)
    • (2004) Epilepsia , vol.45 , Issue.9 , pp. 1154-1157
    • Filocamo, M.1    Mazzotti, R.2    Stroppiano, M.3    Grossi, S.4    Dravet, C.5    Guerrini, R.6
  • 45
    • 0029144034 scopus 로고
    • Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
    • et al.
    • Abrahamov A., Elstein D., Gross-Tsur V., et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet: 1995; 346 8981 1000 1003
    • (1995) Lancet , vol.346 , Issue.8981 , pp. 1000-1003
    • Abrahamov, A.1    Elstein, D.2    Gross-Tsur, V.3
  • 46
    • 0025869216 scopus 로고
    • Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
    • et al.
    • Barton N. W., Brady R. O., Dambrosia J. M., et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med: 1991; 324 21 1464 1470
    • (1991) N Engl J Med , vol.324 , Issue.21 , pp. 1464-1470
    • Barton, N.W.1    Brady, R.O.2    Dambrosia, J.M.3
  • 47
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: Complexity in a "simple" disorder
    • DOI 10.1016/j.ymgme.2004.08.015, PII S1096719204002240, ASHG 2004 Meeting Toronto
    • Sidransky E. Gaucher disease: complexity in a "simpleo" disorder. Mol Genet Metab: 2004; 83 1-2 6 15 (Pubitemid 39311276)
    • (2004) Molecular Genetics and Metabolism , vol.83 , Issue.1-2 , pp. 6-15
    • Sidransky, E.1
  • 48
    • 0024998724 scopus 로고
    • Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene
    • Dahl N., Lagerström M., Erikson A., Pettersson U. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet: 1990; 47 2 275 278
    • (1990) Am J Hum Genet , vol.47 , Issue.2 , pp. 275-278
    • Dahl, N.1    Lagerström, M.2    Erikson, A.3    Pettersson, U.4
  • 49
    • 78650805110 scopus 로고    scopus 로고
    • A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
    • et al.
    • Kraoua I., Sedel F., Caillaud C., et al. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients. Brain Dev: 2011; 33 2 131 139
    • (2011) Brain Dev , vol.33 , Issue.2 , pp. 131-139
    • Kraoua, I.1    Sedel, F.2    Caillaud, C.3
  • 50
    • 0034684728 scopus 로고    scopus 로고
    • Incidence of thrombophilia in patients with Gaucher disease
    • Elstein D., Renbaum P., Levy-Lahad E., Zimran A. Incidence of thrombophilia in patients with Gaucher disease. Am J Med Genet: 2000; 95 5 429 431
    • (2000) Am J Med Genet , vol.95 , Issue.5 , pp. 429-431
    • Elstein, D.1    Renbaum, P.2    Levy-Lahad, E.3    Zimran, A.4
  • 51
    • 8044248969 scopus 로고    scopus 로고
    • Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy
    • DOI 10.1046/j.1365-2141.1997.d01-2076.x
    • Hollak C. E., Levi M., Berends F., Aerts J. M., van Oers M. H. Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Br J Haematol: 1997; 96 3 470 476 (Pubitemid 27087229)
    • (1997) British Journal of Haematology , vol.96 , Issue.3 , pp. 470-476
    • Hollak, C.E.M.1    Marcel, L.2    Berends, F.3    Aerts, J.M.F.G.4    Van Oers, M.H.J.5
  • 52
    • 0042309573 scopus 로고    scopus 로고
    • D-dimer assay in Gaucher disease: Correlation with severity of bone and lung involvement
    • DOI 10.1002/ajh.10361
    • Shitrit D., Rudensky B., Zimran A., Elstein D. D-dimer assay in Gaucher disease: correlation with severity of bone and lung involvement. Am J Hematol: 2003; 73 4 236 239 (Pubitemid 36898879)
    • (2003) American Journal of Hematology , vol.73 , Issue.4 , pp. 236-239
    • Shitrit, D.1    Rudensky, B.2    Zimran, A.3    Elstein, D.4
  • 54
    • 79953842411 scopus 로고    scopus 로고
    • Platelet adhesion defect in type i Gaucher disease is associated with a risk of mucosal bleeding
    • et al.
    • Spectre G., Roth B., Ronen G., et al. Platelet adhesion defect in type I Gaucher disease is associated with a risk of mucosal bleeding. Br J Haematol: 2011; 153 3 372 378
    • (2011) Br J Haematol , vol.153 , Issue.3 , pp. 372-378
    • Spectre, G.1    Roth, B.2    Ronen, G.3
  • 55
    • 0029866861 scopus 로고    scopus 로고
    • Coagulation abnormalities in patients with Gaucher's disease: Effect of therapy
    • DOI 10.1002/(SICI)1096-8652(199603)51:3<234::AID-AJH9>3.0.CO;2-Y
    • Billett H. H., Rizvi S., Sawitsky A. Coagulation abnormalities in patients with Gaucher's disease: effect of therapy. Am J Hematol: 1996; 51 3 234 236 (Pubitemid 26086371)
    • (1996) American Journal of Hematology , vol.51 , Issue.3 , pp. 234-236
    • Billett, H.H.1    Rizvi, S.2    Sawitsky, A.3
  • 56
    • 33746638717 scopus 로고    scopus 로고
    • Platelet function and coagulation abnormalities in type 1 Gaucher disease patients: Effects of enzyme replacement therapy (ERT) [2]
    • DOI 10.1111/j.1538-7836.2006.02037.x
    • Giona F., Palumbo G., Amendola A., Santoro C., Mazzuconi M. G. Platelet function and coagulation abnormalities in type 1 Gaucher disease patients: effects of enzyme replacement therapy (ERT). J Thromb Haemost: 2006; 4 8 1831 1833 (Pubitemid 44144813)
    • (2006) Journal of Thrombosis and Haemostasis , vol.4 , Issue.8 , pp. 1831-1833
    • Giona, F.1    Palumbo, G.2    Amendola, A.3    Santoro, C.4    Mazzuconi, M.G.5
  • 57
    • 0017031539 scopus 로고
    • Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease
    • Seligsohn U., Zitman D., Many A., Klibansky C. Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease. Isr J Med Sci: 1976; 12 12 1448 1452 (Pubitemid 8033481)
    • (1976) Israel Journal of Medical Sciences , vol.12 , Issue.12 , pp. 1448-1452
    • Seligsohn, U.1    Zitman, D.2    Many, A.3    Klibansky, C.4
  • 58
    • 0026740511 scopus 로고
    • High incidence of factor XI deficiency in Gaucher's disease
    • Berrebi A., Malnick S. D., Vorst E. J., Stein D. High incidence of factor XI deficiency in Gaucher's disease. Am J Hematol: 1992; 40 2 153
    • (1992) Am J Hematol , vol.40 , Issue.2 , pp. 153
    • Berrebi, A.1    Malnick, S.D.2    Vorst, E.J.3    Stein, D.4
  • 59
    • 84856838036 scopus 로고    scopus 로고
    • Haemostatic abnormalities in treatment-naïve patients with Type 1 Gaucher's disease
    • et al.
    • Mitrovic M., Antic D., Elezovic I., et al. Haemostatic abnormalities in treatment-naïve patients with Type 1 Gaucher's disease. Platelets: 2012; 23 2 143 149
    • (2012) Platelets , vol.23 , Issue.2 , pp. 143-149
    • Mitrovic, M.1    Antic, D.2    Elezovic, I.3
  • 60
    • 33746804538 scopus 로고    scopus 로고
    • Coagulation abnormalities in type 1 Gaucher disease in children
    • DOI 10.1080/08880010600623232, PII RQ23207131036833
    • Deghady A., Marzouk I., El-Shayeb A., Wali Y. Coagulation abnormalities in type 1 Gaucher disease in children. Pediatr Hematol Oncol: 2006; 23 5 411 417 (Pubitemid 44174047)
    • (2006) Pediatric Hematology and Oncology , vol.23 , Issue.5 , pp. 411-417
    • Deghady, A.1    Marzouk, I.2    El-Shayeb, A.3    Wali, Y.4
  • 61
    • 34347383972 scopus 로고    scopus 로고
    • Acquired von Willebrand disease in a Turkish boy with Gaucher disease [1]
    • DOI 10.1080/08880010701360619, PII 779737385
    • Tavil B., Balci Y. I., Karacan C., Sahin M., Kara A. Acquired von Willebrand disease in a Turkish boy with Gaucher disease. Pediatr Hematol Oncol: 2007; 24 4 317 319 (Pubitemid 47026961)
    • (2007) Pediatric Hematology and Oncology , vol.24 , Issue.4 , pp. 317-319
    • Tavil, B.1    Balci, Y.I.2    Karacan, C.3    Sahin, M.4    Kara, A.5
  • 62
    • 0016256757 scopus 로고
    • Splenomegaly associated with chronic consumption coagulopathy
    • Gerrits W. B., van Aken W. G., van der Meer J., Vreeken J. Splenomegaly associated with chronic consumption coagulopathy. Acta Med Scand: 1974; 195 5 425 430
    • (1974) Acta Med Scand , vol.195 , Issue.5 , pp. 425-430
    • Gerrits, W.B.1    Van Aken, W.G.2    Van Der Meer, J.3    Vreeken, J.4
  • 63
    • 0028347683 scopus 로고
    • Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease
    • Kelsey H., Christopoulos C., Gray A. A., Machin S. J. Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease. J Clin Pathol: 1994; 47 2 162 165 (Pubitemid 24095473)
    • (1994) Journal of Clinical Pathology , vol.47 , Issue.2 , pp. 162-165
    • Kelsey, H.1    Christopoulos, C.2    Gray, A.A.3    Machin, S.J.4
  • 64
    • 0032977820 scopus 로고    scopus 로고
    • Platelet function abnormalities in Gaucher disease patients
    • DOI 10.1002/(SICI)1096-8652(199906)61:2<103::AID-AJH5>3.0.CO;2-V
    • Gillis S., Hyam E., Abrahamov A., Elstein D., Zimran A. Platelet function abnormalities in Gaucher disease patients. Am J Hematol: 1999; 61 2 103 106 (Pubitemid 29252386)
    • (1999) American Journal of Hematology , vol.61 , Issue.2 , pp. 103-106
    • Gillis, S.1    Hyam, E.2    Abrahamov, A.3    Elstein, D.4    Zimran, A.5
  • 65
    • 84355163096 scopus 로고    scopus 로고
    • Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease
    • et al.
    • Givol N., Goldstein G., Peleg O., et al. Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease. Haemophilia: 2012; 18 1 117 121
    • (2012) Haemophilia , vol.18 , Issue.1 , pp. 117-121
    • Givol, N.1    Goldstein, G.2    Peleg, O.3
  • 66
    • 0035963926 scopus 로고    scopus 로고
    • Gaucher's disease
    • DOI 10.1016/S0140-6736(01)05490-3
    • Elstein D., Abrahamov A., Hadas-Halpern I., Zimran A. Gaucher's disease. Lancet: 2001; 358 9278 324 327 (Pubitemid 32738977)
    • (2001) Lancet , vol.358 , Issue.9278 , pp. 324-327
    • Elstein, D.1    Abrahamov, A.2    Hadas-Halpern, I.3    Zimran, A.4
  • 67
    • 71849089219 scopus 로고    scopus 로고
    • Neuropathology of non-motor features of Parkinson disease
    • et al. 03
    • Dickson D. W., Fujishiro H., Orr C., et al. Neuropathology of non-motor features of Parkinson disease. Parkinsonism Relat Disord: 2009; 15 03 S1 S5
    • (2009) Parkinsonism Relat Disord , vol.15
    • Dickson, D.W.1    Fujishiro, H.2    Orr, C.3
  • 68
    • 70349434716 scopus 로고    scopus 로고
    • Neuropathology of Lewy body disorders
    • Kövari E., Horvath J., Bouras C. Neuropathology of Lewy body disorders. Brain Res Bull: 2009; 80 4-5 203 210
    • (2009) Brain Res Bull , vol.80 , Issue.45 , pp. 203-210
    • Kövari, E.1    Horvath, J.2    Bouras, C.3
  • 69
    • 33645749795 scopus 로고    scopus 로고
    • Motor score of the Unified Parkinson Disease Rating Scale as a good predictor of Lewy body-associated neuronal loss in the substantia nigra
    • et al.
    • Greffard S., Verny M., Bonnet A. M., et al. Motor score of the Unified Parkinson Disease Rating Scale as a good predictor of Lewy body-associated neuronal loss in the substantia nigra. Arch Neurol: 2006; 63 4 584 588
    • (2006) Arch Neurol , vol.63 , Issue.4 , pp. 584-588
    • Greffard, S.1    Verny, M.2    Bonnet, A.M.3
  • 70
    • 1842290405 scopus 로고    scopus 로고
    • Which clinical sign of Parkinson's disease best reflects the nigrostriatal lesion?
    • DOI 10.1002/ana.410410111
    • Vingerhoets F. J., Schulzer M., Calne D. B., Snow B. J. Which clinical sign of Parkinson's disease best reflects the nigrostriatal lesion? Ann Neurol: 1997; 41 1 58 64 (Pubitemid 27057093)
    • (1997) Annals of Neurology , vol.41 , Issue.1 , pp. 58-64
    • Francois, J.G.1    Vingerhoets2    Schulzer, M.3    Calne, D.B.4    Snow, B.J.5
  • 71
    • 84857536339 scopus 로고    scopus 로고
    • Nigral pathology and parkinsonian signs in elders without Parkinson disease
    • et al.
    • Buchman A. S., Shulman J. M., Nag S., et al. Nigral pathology and parkinsonian signs in elders without Parkinson disease. Ann Neurol: 2012; 71 2 258 266
    • (2012) Ann Neurol , vol.71 , Issue.2 , pp. 258-266
    • Buchman, A.S.1    Shulman, J.M.2    Nag, S.3
  • 72
    • 41149115508 scopus 로고    scopus 로고
    • Evidence that incidental Lewy body disease is pre-symptomatic Parkinson's disease
    • et al.
    • Dickson D. W., Fujishiro H., DelleDonne A., et al. Evidence that incidental Lewy body disease is pre-symptomatic Parkinson's disease. Acta Neuropathol: 2008; 115 4 437 444
    • (2008) Acta Neuropathol , vol.115 , Issue.4 , pp. 437-444
    • Dickson, D.W.1    Fujishiro, H.2    Delledonne, A.3
  • 75
    • 67650087652 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
    • et al.
    • Neumann J., Bras J., Deas E., et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain: 2009; 132 Pt 7 1783 1794
    • (2009) Brain , vol.132 , Issue.PART 7 , pp. 1783-1794
    • Neumann, J.1    Bras, J.2    Deas, E.3
  • 76
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • DOI 10.1056/NEJMoa033277
    • Aharon-Peretz J., Rosenbaum H., Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med: 2004; 351 19 1972 1977 (Pubitemid 39447138)
    • (2004) New England Journal of Medicine , vol.351 , Issue.19 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 77
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • et al.
    • Sidransky E., Nalls M. A., Aasly J. O., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med: 2009; 361 17 1651 1661
    • (2009) N Engl J Med , vol.361 , Issue.17 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 78
    • 84878798127 scopus 로고    scopus 로고
    • A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
    • et al.
    • Nalls M. A., Duran R., Lopez G., et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol: 2013; 70 6 727 735
    • (2013) JAMA Neurol , vol.70 , Issue.6 , pp. 727-735
    • Nalls, M.A.1    Duran, R.2    Lopez, G.3
  • 79
    • 84867036900 scopus 로고    scopus 로고
    • Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains
    • et al.
    • Gegg M. E., Burke D., Heales S. J., et al. Glucocerebrosidase deficiency in substantia nigra of Parkinson disease brains. Ann Neurol: 2012; 72 3 455 463
    • (2012) Ann Neurol , vol.72 , Issue.3 , pp. 455-463
    • Gegg, M.E.1    Burke, D.2    Heales, S.J.3
  • 80
    • 84867616698 scopus 로고    scopus 로고
    • The link between the GBA gene and parkinsonism
    • Sidransky E., Lopez G. The link between the GBA gene and parkinsonism. Lancet Neurol: 2012; 11 11 986 998
    • (2012) Lancet Neurol , vol.11 , Issue.11 , pp. 986-998
    • Sidransky, E.1    Lopez, G.2
  • 81
    • 71049138581 scopus 로고    scopus 로고
    • Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism
    • Manning-Boǧ A. B., Schüle B., Langston J. W. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology: 2009; 30 6 1127 1132
    • (2009) Neurotoxicology , vol.30 , Issue.6 , pp. 1127-1132
    • Manning-Boǧ, A.B.1    Schüle, B.2    Langston, J.W.3
  • 82
    • 79956199921 scopus 로고    scopus 로고
    • Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing
    • et al.
    • Cullen V., Sardi S. P., Ng J., et al. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing. Ann Neurol: 2011; 69 6 940 953
    • (2011) Ann Neurol , vol.69 , Issue.6 , pp. 940-953
    • Cullen, V.1    Sardi, S.P.2    Ng, J.3
  • 83
    • 79952619654 scopus 로고    scopus 로고
    • Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models
    • Xu Y. H., Sun Y., Ran H., Quinn B., Witte D., Grabowski G. A. Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. Mol Genet Metab: 2011; 102 4 436 447
    • (2011) Mol Genet Metab , vol.102 , Issue.4 , pp. 436-447
    • Xu, Y.H.1    Sun, Y.2    Ran, H.3    Quinn, B.4    Witte, D.5    Grabowski, G.A.6
  • 84
    • 79960009804 scopus 로고    scopus 로고
    • Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
    • et al.
    • Mazzulli J. R., Xu Y. H., Sun Y., et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell: 2011; 146 1 37 52
    • (2011) Cell , vol.146 , Issue.1 , pp. 37-52
    • Mazzulli, J.R.1    Xu, Y.H.2    Sun, Y.3
  • 85
    • 0038617266 scopus 로고    scopus 로고
    • Coagulation-fibrinolysis abnormalities in patients receiving antiparkinsonian agents
    • DOI 10.1016/S0022-510X(03)00101-1
    • Sato Y., Kaji M., Metoki N., Yoshida H., Satoh K. Coagulation- fibrinolysis abnormalities in patients receiving antiparkinsonian agents. J Neurol Sci: 2003; 212 1-2 55 58 (Pubitemid 36693965)
    • (2003) Journal of the Neurological Sciences , vol.212 , Issue.1-2 , pp. 55-58
    • Sato, Y.1    Kaji, M.2    Metoki, N.3    Yoshida, H.4    Satoh, K.5
  • 86
    • 75649087421 scopus 로고    scopus 로고
    • Asymptomatic deep venous thrombosis after deep brain stimulation for Parkinson disease
    • et al.
    • Zibetti M., Rosso M., Cinquepalmi A., et al. Asymptomatic deep venous thrombosis after deep brain stimulation for Parkinson disease. Stereotact Funct Neurosurg: 2010; 88 2 94 97
    • (2010) Stereotact Funct Neurosurg , vol.88 , Issue.2 , pp. 94-97
    • Zibetti, M.1    Rosso, M.2    Cinquepalmi, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.