메뉴 건너뛰기




Volumn 63, Issue 5, 2011, Pages 425-430

Early diagnosis of Fabry disease in children;Diagnosi precoce di malattia di Fabry in età pediatrica

Author keywords

Child; Fabry disease; Multiple organ failure

Indexed keywords

AGASIDASE ALPHA; ALPHA GALACTOSIDASE; ARGININE; CYSTEINE; THREONINE; UNCLASSIFIED DRUG;

EID: 82955214747     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (11)
  • 1
    • 53749104902 scopus 로고    scopus 로고
    • Fabry's disease
    • Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-35.
    • (2008) Lancet , vol.372 , pp. 1427-1435
    • Zarate, Y.A.1    Hopkin, R.J.2
  • 2
    • 16844370666 scopus 로고    scopus 로고
    • Genotype and phenotype in Fabry disease: Analysis of the Fabry Outcome Survey
    • Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005;94:87-92.
    • (2005) Acta Paediatr Suppl , vol.94 , pp. 87-92
    • Schaefer, E.1    Mehta, A.2    Gal, A.3
  • 3
    • 70349187343 scopus 로고    scopus 로고
    • Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences
    • Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J Pediatr 2009; 155(4 Suppl):S19-31.
    • (2009) J Pediatr , vol.155 , Issue.4 SUPPL.
    • Martins, A.M.1    D'Almeida, V.2    Kyosen, S.O.3    Takata, E.T.4    Delgado, A.G.5    Gonçalves, A.M.6
  • 4
    • 70349616542 scopus 로고    scopus 로고
    • Fabry disease in children and the effects of enzyme replacement treatment
    • Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr 2009;168:1355-63.
    • (2009) Eur J Pediatr , vol.168 , pp. 1355-1363
    • Pintos-Morell, G.1    Beck, M.2
  • 5
    • 70350509103 scopus 로고    scopus 로고
    • Enzyme replacement therapy for Fabry disease: A systematic review of available evidence
    • Schaefer RM, Tylki-Szymanska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009;09:2179-205.
    • (2009) Drugs , vol.9 , pp. 2179-2205
    • Schaefer, R.M.1    Tylki-Szymanska, A.2    Hilz, M.J.3
  • 6
    • 63149135596 scopus 로고    scopus 로고
    • Fabry disease
    • Schiffmann R. Fabry disease. Pharmcol Ther 2009;122:65-77.
    • (2009) Pharmcol Ther , vol.122 , pp. 65-77
    • Schiffmann, R.1
  • 8
    • 39149133142 scopus 로고    scopus 로고
    • Diagnosis of Fabry disease via analysis of family history
    • Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008;17:79-83.
    • (2008) J Genet Couns , vol.17 , pp. 79-83
    • Laney, D.A.1    Fernhoff, P.M.2
  • 9
    • 41149176898 scopus 로고    scopus 로고
    • Fabry disease prenatal diagnosis
    • DOI 10.1002/pd.1942
    • Raas-Rothschild A, Lacombe D. Fabry disease prenatal diagnosis. Prenat Diagn 2008;28:268. (Pubitemid 351427953)
    • (2008) Prenatal Diagnosis , vol.28 , Issue.3 , pp. 268
    • Raas-Rothschild, A.1    Lacombe, D.2
  • 10
    • 33847050214 scopus 로고    scopus 로고
    • Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature
    • Lidove O, Joly D, Barbey F, Bekri S, Alexandra JF, Peigne V et al. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract 2007;61:293-302.
    • (2007) Int J Clin Pract , vol.61 , pp. 293-302
    • Lidove, O.1    Joly, D.2    Barbey, F.3    Bekri, S.4    Alexandra, J.F.5    Peigne, V.6
  • 11
    • 67651123138 scopus 로고    scopus 로고
    • Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
    • Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11.
    • (2009) Nephrol Dial Transplant , vol.24 , pp. 2102-2111
    • Schiffmann, R.1    Warnock, D.G.2    Banikazemi, M.3    Bultas, J.4    Linthorst, G.E.5    Packman, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.