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Volumn 21, Issue 1, 2011, Pages 1-7

Gaucher's disease in Albanian children: Casuistics and Treatment

Author keywords

Cerebrosides; Ceredase; Cerezyme; Enzyme replacement therapy; Gaucher disease; Glucocerebrosidase

Indexed keywords

BIOLOGICAL MARKER; CHITOTRIOSIDASE; IMIGLUCERASE;

EID: 79952910524     PISSN: 10184406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (25)
  • 1
    • 79952924632 scopus 로고    scopus 로고
    • Introduction: Overview and historical perspective in Gaucher disease
    • Futerman AH, Zimran A, eds., Fla, CRC/Taylor & Francis
    • Brady OR. Introduction: overview and historical perspective in Gaucher disease. In: Futerman AH, Zimran A, eds. Gaucher Disease Boca Raton, Fla, CRC/Taylor & Francis. 2007; Pp: 1-13.
    • (2007) Gaucher Disease Boca Raton , pp. 1-13
    • Brady, O.R.1
  • 2
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • 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.
    • (2004) N Engl J Med , vol.351 , Issue.19 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 4
    • 42949118684 scopus 로고    scopus 로고
    • Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
    • Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008;29(5):567-583.
    • (2008) Hum Mutat , vol.29 , Issue.5 , pp. 567-583
    • Hruska, K.S.1    Lamarca, M.E.2    Scott, C.R.3    Sidransky, E.4
  • 5
    • 84892888218 scopus 로고    scopus 로고
    • Neuronopathic Gaucher disease
    • Futerman AH, Zimran A, Fl: CRC Press Taylor & Francis
    • Raphael S, Ashok V. Neuronopathic Gaucher disease. In: Futerman AH, Zimran A, (eds). Gaucher Disease Boca Raton, Fl: CRC Press, Taylor & Francis. 2007; Pp: 175-196.
    • (2007) Gaucher Disease Boca Raton , pp. 175-196
    • Raphael, S.1    Ashok, V.2
  • 6
    • 79952934376 scopus 로고    scopus 로고
    • Errori congeniti del metabolismo
    • Neri G, Maurizio G. eds., Elsevier: Masson
    • Zammarchi E, Donati MA, Morrone A. Errori congeniti del metabolismo. In: Neri G, Maurizio G. eds. Genetica Umana e Medica Elsevier: Masson. 2007; Pp: 185-200.
    • (2007) Genetica Umana E Medica , pp. 185-200
    • Zammarchi, E.1    Donati, M.A.2    Morrone, A.3
  • 7
    • 40849093922 scopus 로고    scopus 로고
    • Cellular pathology in Gaucher disease
    • Futerman AH, Zimran A, eds., Fl: CRC Press, Taylor & Francis, Pp
    • Futerman AH. Cellular pathology in Gaucher disease. In: Futerman AH, Zimran A, eds. Gaucher Disease Boca Raton, Fl: CRC Press, Taylor & Francis. 2007; Pp: 97-108.
    • (2007) Gaucher Disease Boca Raton , pp. 97-108
    • Futerman, A.H.1
  • 8
    • 4744370348 scopus 로고    scopus 로고
    • Therapeutic goals in the treatment of Gaucher's disease
    • Gregory P, Noel W, Hans A. Therapeutic goals in the treatment of Gaucher's disease. Semin Hematol 2004;41(4):4-14.
    • (2004) Semin Hematol , vol.41 , Issue.4 , pp. 4-14
    • Gregory, P.1    Noel, W.2    Hans, A.3
  • 9
    • 0023104850 scopus 로고
    • Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease
    • Zidar BL, Hartsock RJ, Lee RE, et al. Pseudo-Gaucher cells in the bone marrow of a patient with Hodgkin's disease. Am J Clin Pathol 1987; 87(4):533-536.
    • (1987) Am J Clin Pathol , vol.87 , Issue.4 , pp. 533-536
    • Zidar, B.L.1    Hartsock, R.J.2    Lee, R.E.3
  • 10
    • 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 Pediatr 2004;144(1):112-120.
    • (2004) J Pediatr , vol.144 , Issue.1 , pp. 112-120
    • Charrow, J.1    Andersson, H.C.2    Kaplan, P.3
  • 11
    • 0018903154 scopus 로고
    • Gaucher disease -norrbottnian type
    • Dreborg S, Erikson A, Hagberg B. Gaucher disease -norrbottnian type. Eur J Pediatr 1980;133(2): 107-118.
    • (1980) Eur J Pediatr , vol.133 , Issue.2 , pp. 107-118
    • Dreborg, S.1    Erikson, A.2    Hagberg, B.3
  • 12
    • 0026750515 scopus 로고
    • Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type 3 (norrbottnian type)
    • Dahl N, Wadelius C, Anneren G, et al. Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type 3 (norrbottnian type). Prena Diagn 1992;12(7): 603-608.
    • (1992) Prena Diagn , vol.12 , Issue.7 , pp. 603-608
    • Dahl, N.1    Wadelius, C.2    Anneren, G.3
  • 13
    • 79952958254 scopus 로고    scopus 로고
    • Gaucher Registry©, Ref nr: CZ/29/P090/0-05/10. Available at, Access date: Sept 10th, 2010
    • Gaucher Registry© 2010, Ref nr: CZ/29/P090/0-05/10. Available at: http://www.gaucherregistry.com. Access date: Sept 10th, 2010.
    • (2010)
  • 14
    • 78650805110 scopus 로고    scopus 로고
    • A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
    • 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 and Development. Brain Dev 2010;33(2):131-139.
    • (2010) Brain and Development. Brain Dev , vol.33 , Issue.2 , pp. 131-139
    • Kraoua, I.1    Sedel, F.2    Caillaud, C.3
  • 15
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibille A, Eng CM, Kim SJ, et al. Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications. Am J Hum Genet 1993; 52(6):1094-1101.
    • (1993) Am J Hum Genet , vol.52 , Issue.6 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.J.3
  • 16
    • 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(2):67-75.
    • (2004) Eur J Pediatr , vol.163 , Issue.2 , pp. 67-75
    • Baldellou, A.1    Andria, G.2    Campbell, P.E.3
  • 17
    • 24644469894 scopus 로고    scopus 로고
    • Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
    • Deegan PB, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005;35(2): 259-267.
    • (2005) Blood Cells Mol Dis , vol.35 , Issue.2 , pp. 259-267
    • Deegan, P.B.1    Moran, M.T.2    McFarlane, I.3
  • 18
    • 0033910320 scopus 로고    scopus 로고
    • Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations
    • Diaz GA, Gelb BD, Risch N, et al. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet 2000; 66(6):1821-1832.
    • (2000) Am J Hum Genet , vol.66 , Issue.6 , pp. 1821-1832
    • Diaz, G.A.1    Gelb, B.D.2    Risch, N.3
  • 19
    • 39049125636 scopus 로고    scopus 로고
    • Prenatal diagnosis of Gaucher disease
    • Germain DP, Benistan K. Prenatal diagnosis of Gaucher disease. Rev Med Intern 2007;28(Suppl 2): S193-S197
    • (2007) Rev Med Intern , vol.28 , Issue.SUPPL. 2
    • Germain, D.P.1    Benistan, K.2
  • 20
    • 53049096591 scopus 로고    scopus 로고
    • Phenotype, diagnosis, and treatment of Gaucher's disease
    • Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372(9645):1263-1271.
    • (2008) Lancet , vol.372 , Issue.9645 , pp. 1263-1271
    • Grabowski, G.A.1
  • 21
    • 79952912381 scopus 로고    scopus 로고
    • Imaging in Gaucher disease, focusing on bone pathology
    • Futerman AH, Zimran A, eds, Fl: CRC Press, Taylor & Francis
    • Mario M, Erik A. Imaging in Gaucher disease, focusing on bone pathology. In: Futerman AH, Zimran A, eds. Gaucher Disease Boca Raton, Fl: CRC Press, Taylor & Francis. 2007; Pp:269-286.
    • (2007) Gaucher Disease Boca Raton , pp. 269-286
    • Mario, M.1    Erik, A.2
  • 22
    • 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(2):112-119.
    • (2002) Am J Med , vol.113 , Issue.2 , pp. 112-119
    • Weinreb, N.J.1    Charrow, J.2    Andersson, H.C.3
  • 23
    • 79952947953 scopus 로고    scopus 로고
    • Guidelines for diagnosis, treatment and monitoring of gaucher's disease
    • The Belgian Working Group on Gaucher Disease, June, Available at, Access date: Sep 18th, 2010
    • The Belgian Working Group on Gaucher Disease. Guidelines for diagnosis, treatment and monitoring of Gaucher's disease. June 2004. Available at: www.lysomed.be/practical/documents/Gaucher%20 guidelines_final.pdf Access date: Sep 18th, 2010.
    • (2004)
  • 24
    • 0027948540 scopus 로고
    • Enzyme replacement treatment in type 1 and type 3 Gaucher's disease
    • Bembi B, Agosti E, Zanatta M, et al. Enzyme replacement treatment in type 1 and type 3 Gaucher's disease. Lancet 1994;344(8938):1679-1682.
    • (1994) Lancet , vol.344 , Issue.8938 , pp. 1679-1682
    • Bembi, B.1    Agosti, E.2    Zanatta, M.3
  • 25
    • 18544382242 scopus 로고    scopus 로고
    • Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: Implications for the prediction of disease severity
    • Whitfield PD, Nelson P, Sharp PC, et al. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol Genet Metab 2002;75(1):46-55.
    • (2002) Mol Genet Metab , vol.75 , Issue.1 , pp. 46-55
    • Whitfield, P.D.1    Nelson, P.2    Sharp, P.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.