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Volumn 200, Issue 11-12, 2005, Pages 857-860

Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma

Author keywords

Fabry disease; Kidney failure; Metabolic disease; Renal cell carcinoma

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

EID: 13544271094     PISSN: 03440338     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.prp.2004.09.003     Document Type: Article
Times cited : (14)

References (8)
  • 2
    • 0000889058 scopus 로고    scopus 로고
    • α-Galctosidase A deficiency: Fabry disease
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle K.E. Kinzler B. Vogelstein (Eds.). 8th ed McGraw-Hill New York
    • R.J. Desnick Y.A. Ioannou C.M. Eng α-Galctosidase A deficiency: Fabry disease. In: C.R. Scriver A.L. Beaudet W.S. Sly D. Valle K.E. Kinzler B. Vogelstein (Eds.). The Metabolic and Molecular Bases of Inherited Disease 8th ed 2001 McGraw-Hill New York 3733-3774
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3733-3774
    • Desnick, R.J.1    Ioannou, Y.A.2    Eng, C.M.3
  • 3
    • 0035537911 scopus 로고    scopus 로고
    • Fabry disease (α-Galactosidase A deficiency): Renal involvement and enzyme replacement therapy
    • R.J. Desnick M.P. Wasserstein M. Banikazemi Fabry disease (α-Galactosidase A deficiency): Renal involvement and enzyme replacement therapy Contrib. Nephrol. 136 2001 174-192
    • (2001) Contrib. Nephrol. , vol.136 , pp. 174-192
    • Desnick, R.J.1    Wasserstein, M.P.2    Banikazemi, M.3
  • 4
    • 0030926514 scopus 로고    scopus 로고
    • Fabry disease: Thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
    • C.M. Eng G.A. Ashley T.S. Burgert A.L. Enriquez M. D'Souza R.J. Desnick Fabry disease: Thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes Mol. Med. 3 1997 174-182
    • (1997) Mol. Med. , vol.3 , pp. 174-182
    • Eng, C.M.1    Ashley, G.A.2    Burgert, T.S.3    Enriquez, A.L.4    D'Souza, M.5    Desnick, R.J.6
  • 7
    • 0036266203 scopus 로고    scopus 로고
    • Biochemical and molecular genetic basis of Fabry disease
    • G.M. Pastores Y.H. Lien Biochemical and molecular genetic basis of Fabry disease J. Am. Soc. Nephrol. 13 2002 S130-S133
    • (2002) J. Am. Soc. Nephrol. , vol.13
    • Pastores, G.M.1    Lien, Y.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.