메뉴 건너뛰기




Volumn 90, Issue S1, 2015, Pages S2-S5

The history and accomplishments of the ICGG Gaucher registry

Author keywords

[No Author keywords available]

Indexed keywords

ALGLUCERASE; BETA GLUCOSIDASE; IMIGLUCERASE;

EID: 84932119715     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.24054     Document Type: Editorial
Times cited : (24)

References (44)
  • 1
    • 39549119956 scopus 로고    scopus 로고
    • Gaucher Disease: Phenotypic and Genetic Variation
    • In: Valle D, Beaudet AL, Vogelstein B, editors. New York, NY: McGraw-Hill Accessed June 03, 2015
    • Grabowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher Disease: Phenotypic and Genetic Variation. In: Valle D, Beaudet AL, Vogelstein B, et al., editors. New York, NY: McGraw-Hill; 2014. http://ommbid.mhmedical.com/content.aspx?bookid=971§ionid=62643794. Accessed June 03, 2015.
    • (2014)
    • Grabowski, G.A.1    Kolodny, E.H.2    Weinreb, N.J.3
  • 2
    • 0020014944 scopus 로고
    • The pathology of Gaucher disease
    • Lee RE. The pathology of Gaucher disease. Prog Clin Biol Res 1982:177-217.
    • (1982) Prog Clin Biol Res , pp. 177-217
    • Lee, R.E.1
  • 3
    • 84875359975 scopus 로고    scopus 로고
    • Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher disease who were never treated with enzyme replacement therapy
    • Weinreb NJ, Lee RE. Causes of death due to hematological and non-hematological cancers in 57 US patients with type 1 Gaucher disease who were never treated with enzyme replacement therapy. Crit Rev Oncog 2013;18:177-195.
    • (2013) Crit Rev Oncog , vol.18 , pp. 177-195
    • Weinreb, N.J.1    Lee, R.E.2
  • 4
    • 84877724206 scopus 로고    scopus 로고
    • Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
    • Weinreb NJGJ, Villalobos J, Charrow J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis 2013;36:543-553.
    • (2013) J Inherit Metab Dis , vol.36 , pp. 543-553
    • Weinreb, N.J.G.J.1    Villalobos, J.2    Charrow, J.3
  • 5
    • 78650408774 scopus 로고    scopus 로고
    • Disease registries and outcomes research in children: focus on lysosomal storage disorders
    • Jones SJE, Prasad S. Disease registries and outcomes research in children: focus on lysosomal storage disorders. Paediatr Drugs 2011;13:33-47.
    • (2011) Paediatr Drugs , vol.13 , pp. 33-47
    • Jones, S.J.E.1    Prasad, S.2
  • 7
    • 79955119883 scopus 로고    scopus 로고
    • Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders
    • Hollak CEAJ, Aymé S, Manuel J. Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis 2011;6:16.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 16
    • Hollak, C.E.A.J.1    Aymé, S.2    Manuel, J.3
  • 8
    • 0034626360 scopus 로고    scopus 로고
    • The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
    • Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-2843.
    • (2000) Arch Intern Med , vol.160 , pp. 2835-2843
    • Charrow, J.1    Andersson, H.C.2    Kaplan, P.3
  • 9
    • 17744421004 scopus 로고    scopus 로고
    • Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
    • Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998;158:1754-1760.
    • (1998) Arch Intern Med , vol.158 , pp. 1754-1760
    • Charrow, J.1    Esplin, J.A.2    Gribble, T.J.3
  • 10
    • 4744358540 scopus 로고    scopus 로고
    • Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
    • Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004;41:15-22.
    • (2004) Semin Hematol , vol.41 , pp. 15-22
    • Weinreb, N.J.1    Aggio, M.C.2    Andersson, H.C.3
  • 11
    • 33845232064 scopus 로고    scopus 로고
    • Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest of the world
    • Sobreira E, Pires RF, Cizmarik M, et al. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest of the world. Mol Genet Metab 2007;90:81-86.
    • (2007) Mol Genet Metab , vol.90 , pp. 81-86
    • Sobreira, E.1    Pires, R.F.2    Cizmarik, M.3
  • 12
    • 84865111827 scopus 로고    scopus 로고
    • [Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher disease]
    • Drelichman G, Linares A, Villalobos J, et al. [Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher disease]. Medicina (B Aires) 2012;72:273-282.
    • (2012) Medicina (B Aires) , vol.72 , pp. 273-282
    • Drelichman, G.1    Linares, A.2    Villalobos, J.3
  • 13
    • 57649224266 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher registry
    • Fairley C, Zimran A, Phillips M, et al. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher registry. J Inherit Metab Dis 2008;31:738-744.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 738-744
    • Fairley, C.1    Zimran, A.2    Phillips, M.3
  • 14
    • 78650842653 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of korean patients with Gaucher disease
    • Jeong SY, Park SJ, Kim HJ. Clinical and genetic characteristics of korean patients with Gaucher disease. Blood Cells Mol Dis 2011;46:11-14.
    • (2011) Blood Cells Mol Dis , vol.46 , pp. 11-14
    • Jeong, S.Y.1    Park, S.J.2    Kim, H.J.3
  • 15
    • 0032956999 scopus 로고    scopus 로고
    • Clinical and molecular characteristics of Japanese Gaucher disease
    • Eto Y, Ida H. Clinical and molecular characteristics of Japanese Gaucher disease. Neurochem Res 1999;24:207-211.
    • (1999) Neurochem Res , vol.24 , pp. 207-211
    • Eto, Y.1    Ida, H.2
  • 16
    • 56749172489 scopus 로고    scopus 로고
    • Life expectancy in Gaucher disease type 1
    • Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol 2008;83:896-900.
    • (2008) Am J Hematol , vol.83 , pp. 896-900
    • Weinreb, N.J.1    Deegan, P.2    Kacena, K.A.3
  • 17
    • 18844388455 scopus 로고    scopus 로고
    • Gaucher disease and cancer incidence: a study from the Gaucher Registry
    • Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005;105:4569-4572.
    • (2005) Blood , vol.105 , pp. 4569-4572
    • Rosenbloom, B.E.1    Weinreb, N.J.2    Zimran, A.3
  • 18
    • 78650821421 scopus 로고    scopus 로고
    • The incidence of parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry
    • Rosenbloom B, Balwani M, Bronstein JM, et al. The incidence of parkinsonism in patients with type 1 Gaucher disease: Data from the ICGG Gaucher Registry. Blood Cells Mol Dis 2011;46:95-102.
    • (2011) Blood Cells Mol Dis , vol.46 , pp. 95-102
    • Rosenbloom, B.1    Balwani, M.2    Bronstein, J.M.3
  • 19
    • 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 NJ, Charrow J, Andersson HC, 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 2002;113:112-119.
    • (2002) Am J Med , vol.113 , pp. 112-119
    • Weinreb, N.J.1    Charrow, J.2    Andersson, H.C.3
  • 20
    • 20944439209 scopus 로고    scopus 로고
    • Individualization of long-term enzyme replacement therapy for Gaucher disease
    • Andersson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 2005;7:105-110.
    • (2005) Genet Med , vol.7 , pp. 105-110
    • Andersson, H.C.1    Charrow, J.2    Kaplan, P.3
  • 21
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher disease
    • Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41:4-14.
    • (2004) Semin Hematol , vol.41 , pp. 4-14
    • Pastores, G.M.1    Weinreb, N.J.2    Aerts, H.3
  • 22
    • 45849102732 scopus 로고    scopus 로고
    • Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
    • Cox TM, Aerts JM, Belmatoug N, et al. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis 2008;31:319-336.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 319-336
    • Cox, T.M.1    Aerts, J.M.2    Belmatoug, N.3
  • 23
    • 56749130566 scopus 로고    scopus 로고
    • A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase
    • Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol 2008;83:890-895.
    • (2008) Am J Hematol , vol.83 , pp. 890-895
    • Weinreb, N.1    Taylor, J.2    Cox, T.3
  • 24
    • 62149099925 scopus 로고    scopus 로고
    • Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
    • Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2009;11:92-100.
    • (2009) Genet Med , vol.11 , pp. 92-100
    • Grabowski, G.A.1    Kacena, K.2    Cole, J.A.3
  • 25
    • 84864315867 scopus 로고    scopus 로고
    • Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years
    • Hollak CE, Belmatoug N, Cole JA, et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol 2012;158:528-538.
    • (2012) Br J Haematol , vol.158 , pp. 528-538
    • Hollak, C.E.1    Belmatoug, N.2    Cole, J.A.3
  • 26
    • 85062549665 scopus 로고    scopus 로고
    • Gaucher disease in Argentina: report from the International Collaborative Gaucher Group (ICGG) Gaucher Registry and the Argentinian group for diagnosis and treatment of Gaucher disease
    • Drelichman G, Fernandez Escobar N, Basack N, et al. Gaucher disease in Argentina: report from the International Collaborative Gaucher Group (ICGG) Gaucher Registry and the Argentinian group for diagnosis and treatment of Gaucher disease. Hematologia (Supplement for Gaucher Disease) 2013;17:4-16.
    • (2013) Hematologia (Supplement for Gaucher Disease) , vol.17 , pp. 4-16
    • Drelichman, G.1    Fernandez Escobar, N.2    Basack, N.3
  • 27
    • 0029846221 scopus 로고    scopus 로고
    • Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase
    • Kaplan P, Mazur A, Manor O, et al. Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr 1996;129:149-153.
    • (1996) J Pediatr , vol.129 , pp. 149-153
    • Kaplan, P.1    Mazur, A.2    Manor, O.3
  • 28
    • 33744957572 scopus 로고    scopus 로고
    • The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
    • Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006;160:603-608.
    • (2006) Arch Pediatr Adolesc Med , vol.160 , pp. 603-608
    • Kaplan, P.1    Andersson, H.C.2    Kacena, K.A.3    Yee, J.D.4
  • 29
    • 49649085254 scopus 로고    scopus 로고
    • Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1
    • Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008;122:1182-1190.
    • (2008) Pediatrics , vol.122 , pp. 1182-1190
    • Andersson, H.1    Kaplan, P.2    Kacena, K.3    Yee, J.4
  • 30
    • 10744221808 scopus 로고    scopus 로고
    • Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
    • Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004;163:58-66.
    • (2004) Eur J Pediatr , vol.163 , pp. 58-66
    • Grabowski, G.A.1    Andria, G.2    Baldellou, A.3
  • 31
    • 10744229163 scopus 로고    scopus 로고
    • Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring
    • Baldellou A, Andria G, Campbell PE, et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 2004;163:67-75.
    • (2004) Eur J Pediatr , vol.163 , pp. 67-75
    • Baldellou, A.1    Andria, G.2    Campbell, P.E.3
  • 32
    • 9144251964 scopus 로고    scopus 로고
    • Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
    • Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatrics 2004;144:112-120.
    • (2004) J Pediatrics , vol.144 , pp. 112-120
    • Charrow, J.1    Andersson, H.C.2    Kaplan, P.3
  • 33
    • 84876537820 scopus 로고    scopus 로고
    • Revised recommendations for the management of Gaucher disease in children
    • Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 2012;172:447-458.
    • (2012) Eur J Pediatr , vol.172 , pp. 447-458
    • Kaplan, P.1    Baris, H.2    De Meirleir, L.3
  • 34
    • 84932175832 scopus 로고    scopus 로고
    • Long-term effect of imiglucerase in latin american children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group Gaucher Registry
    • Camelo JS, Drelichman GG, Kerstenetzky MM, et al. Long-term effect of imiglucerase in latin american children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group Gaucher Registry. BMC Hematol 2014;14:10
    • (2014) BMC Hematol , vol.14 , pp. 10
    • Camelo, J.S.1    Drelichman, G.G.2    Kerstenetzky, M.M.3
  • 36
    • 78650827299 scopus 로고    scopus 로고
    • Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults
    • Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis 2011;46:66-72.
    • (2011) Blood Cells Mol Dis , vol.46 , pp. 66-72
    • Mistry, P.K.1    Weinreb, N.J.2    Kaplan, P.3
  • 37
    • 0036073123 scopus 로고    scopus 로고
    • Response of Gaucher bone disease to enzyme replacement therapy
    • Poll LW, Maas M, Terk MR, et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 2002;75(Suppl 1):A25-A36.
    • (2002) Br J Radiol , vol.75 , pp. A25-A36
    • Poll, L.W.1    Maas, M.2    Terk, M.R.3
  • 38
    • 33847274180 scopus 로고    scopus 로고
    • The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
    • Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007;71:205-211.
    • (2007) Clin Genet , vol.71 , pp. 205-211
    • Charrow, J.1    Dulisse, B.2    Grabowski, G.A.3    Weinreb, N.J.4
  • 39
    • 33845933154 scopus 로고    scopus 로고
    • Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
    • Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007; 22:119-126.
    • (2007) J Bone Miner Res , vol.22 , pp. 119-126
    • Wenstrup, R.J.1    Kacena, K.A.2    Kaplan, P.3
  • 40
    • 70350451759 scopus 로고    scopus 로고
    • Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
    • Mistry PK, Deegan P, Vellodi A, et al. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol 2009;147:561-570.
    • (2009) Br J Haematol , vol.147 , pp. 561-570
    • Mistry, P.K.1    Deegan, P.2    Vellodi, A.3
  • 41
    • 84864143138 scopus 로고    scopus 로고
    • Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease - a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
    • Khan A, Hangartner T, Weinreb NJ, et al. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease - a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res 2012;27:1839-1848.
    • (2012) J Bone Miner Res , vol.27 , pp. 1839-1848
    • Khan, A.1    Hangartner, T.2    Weinreb, N.J.3
  • 42
    • 77956064508 scopus 로고    scopus 로고
    • Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
    • Tylki-Szymanska A, Vellodi A, El-Beshlawy A, et al. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 2010;33:339-346.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 339-346
    • Tylki-Szymanska, A.1    Vellodi, A.2    El-Beshlawy, A.3
  • 43
    • 84932187905 scopus 로고    scopus 로고
    • E. Phenotypic spectrum of hematological and visceral disease in type 3 Gaucher disease and response to imiglucerase therapy: preliminary analysis from the ICGG Gaucher Registry
    • Mistry P, Kolodny E, Anna T-S, et al. E. Phenotypic spectrum of hematological and visceral disease in type 3 Gaucher disease and response to imiglucerase therapy: preliminary analysis from the ICGG Gaucher Registry. Mol Gen Metab 2012;105:s46-s47.
    • (2012) Mol Gen Metab , vol.105 , pp. s46-s47
    • Mistry, P.1    Kolodny, E.2    Anna, T.-S.3
  • 44
    • 80052565472 scopus 로고    scopus 로고
    • Reducing selection bias in case-control studies from rare disease registries
    • Cole JA, Taylor JS, Hangartner TN, et al. Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis 2011;6:61.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 61
    • Cole, J.A.1    Taylor, J.S.2    Hangartner, T.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.