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Volumn 136, Issue , 2001, Pages 211-215

The role of renal biopsy in the diagnosis of Fabry's disease

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BIOPSY; CASE REPORT; FABRY DISEASE; FEMALE; HUMAN; KIDNEY; MALE; PATHOLOGY;

EID: 0035537929     PISSN: 03025144     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article
Times cited : (2)

References (17)
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    • (1992) Advanced Renal Medicine , pp. 163-174
    • Morgan, S.H.1
  • 5
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    • Fabry disease: α-galactosidase deficiency; Schindler disease: α-N-acetylgalactosaminidase deficiency
    • Scriver CR, Beaudet AI, Sly WS, Valle D (eds): New York, McGraw-Hill
    • Desnick RJ, Bishop DF: Fabry disease: α-galactosidase deficiency; Schindler disease: α-N-acetylgalactosaminidase deficiency; in Scriver CR, Beaudet AI, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1989, pp 1751-1796.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1751-1796
    • Desnick, R.J.1    Bishop, D.F.2
  • 7
    • 0008805394 scopus 로고
    • Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis
    • Leder AA, Bosworth WC: Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis. Am J Med 1965;38:814-819.
    • (1965) Am J Med , vol.38 , pp. 814-819
    • Leder, A.A.1    Bosworth, W.C.2
  • 9
    • 9244265659 scopus 로고
    • L'atteinte rénale au cours de la maladie de Fabry
    • Hamburgher J, Cosneir J, Grünfeld JP (eds): Paris, Flammarion
    • Grünfeld JP: L'atteinte rénale au cours de la maladie de Fabry; in Hamburgher J, Cosneir J, Grünfeld JP (eds): Néphrologie. Paris, Flammarion, 1979, pp 689-696.
    • (1979) Néphrologie , pp. 689-696
    • Grünfeld, J.P.1
  • 10
    • 0021856677 scopus 로고
    • Diagnostic value of kidney biopsy in heterozygous Fabry's disease
    • Farge D, Nadler S, Wolfe LS: Diagnostic value of kidney biopsy in heterozygous Fabry's disease. Arch Pathol 1985;109:85-88.
    • (1985) Arch Pathol , vol.109 , pp. 85-88
    • Farge, D.1    Nadler, S.2    Wolfe, L.S.3
  • 11
    • 0017872842 scopus 로고
    • Early renal changes in hemizygous and heterozygous patients with Fabry's disease
    • Gubler MC, Lenoir G, Grünfeld JP: Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978;13:223-235.
    • (1978) Kidney Int , vol.13 , pp. 223-235
    • Gubler, M.C.1    Lenoir, G.2    Grünfeld, J.P.3
  • 13
    • 0025090042 scopus 로고
    • A case of Fabry disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by ser
    • Koide T, Ishiura M, Iwai K: A case of Fabry disease in a patient with no α-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. FEBS Lett 1990;259:353-356.
    • (1990) FEBS Lett , vol.259 , pp. 353-356
    • Koide, T.1    Ishiura, M.2    Iwai, K.3
  • 14
    • 0026506110 scopus 로고
    • Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
    • Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 1992;89:29-32.
    • (1992) Hum Genet , vol.89 , pp. 29-32
    • Ishii, S.1    Sakuraba, H.2    Suzuki, Y.3
  • 15
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    • Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6
    • Ishii S, Kase R, Sakuraba H: Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1994;1204:265-270.
    • (1994) Biochim Biophys Acta , vol.1204 , pp. 265-270
    • Ishii, S.1    Kase, R.2    Sakuraba, H.3
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    • Clinical features of and recent advances in therapy for Fabry disease
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.