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Volumn 8, Issue 4, 2013, Pages 629-636

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; GLOBOTRIAOSYLCERAMIDE; GLYCOLIPID;

EID: 84876013615     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.08780812     Document Type: Article
Times cited : (38)

References (29)
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  • 16
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    • Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
    • Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81: 157-171, 1973
    • (1973) J Lab Clin Med , vol.81 , pp. 157-171
    • Desnick, R.J.1    Allen, K.Y.2    Desnick, S.J.3    Raman, M.K.4    Bernlohr, R.W.5    Krivit, W.6
  • 18
    • 84876014253 scopus 로고    scopus 로고
    • The Japanese Association of Medical Sciences: Guidelines for Genetic Tests and Diagnoses in Medical Practice, Available at, Accessed February 18, 2011
    • The Japanese Association of Medical Sciences: Guidelines for Genetic Tests and Diagnoses in Medical Practice, 2011. Available at: http://jams.med.or.jp/. Accessed February 18, 2011
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  • 19
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    • Restless legs syndrome in Fabry disease: Clinical feature associated to neuropathic pain is overlooked
    • Domínguez RO, Michref A, Tanus E, Amartino H: [Restless legs syndrome in Fabry disease: Clinical feature associated to neuropathic pain is overlooked]. Rev Neurol 45: 474-478, 2007
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    • Domínguez, R.O.1    Michref, A.2    Tanus, E.3    Amartino, H.4
  • 21
    • 33645223499 scopus 로고    scopus 로고
    • Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
    • Shabbeer J, Yasuda M, Benson SD, Desnick RJ: Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2: 297-309, 2006
    • (2006) Hum Genomics , vol.2 , pp. 297-309
    • Shabbeer, J.1    Yasuda, M.2    Benson, S.D.3    Desnick, R.J.4
  • 23
    • 77957592518 scopus 로고    scopus 로고
    • Mutations of the GLA gene in Korean patientswith Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
    • Lee BH, Heo SH, Kim GH, Park JY, Kim WS, Kang DH, Choe KH, Kim WH, Yang SH, Yoo HW: Mutations of the GLA gene in Korean patientswith Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 55: 512-517, 2010
    • (2010) J Hum Genet , vol.55 , pp. 512-517
    • Lee, B.H.1    Heo, S.H.2    Kim, G.H.3    Park, J.Y.4    Kim, W.S.5    Kang, D.H.6    Choe, K.H.7    Kim, W.H.8    Yang, S.H.9    Yoo, H.W.10
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    • Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test
    • Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S: Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3: 139-145, 2008
    • (2008) Clin J Am Soc Nephrol , vol.3 , pp. 139-145
    • Andrade, J.1    Waters, P.J.2    Singh, R.S.3    Levin, A.4    Toh, B.C.5    Vallance, H.D.6    Sirrs, S.7
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    • Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group
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    • Gal, A.1    Hughes, D.A.2    Winchester, B.3
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    • Gal A: Molecular genetics of Fabry disease and genotype-phenotype correlation. In: Fabry Disease, edited by Elstein D, Altarescu G, Beck M, Dordrecht, The Netherlands, Springer Science + Business Media B.V., 2010, pp 3-19
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    • Gal, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.