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Volumn 129, Issue 3, 1996, Pages 453-456

Correction of congenital erythropoietic porphyria by bone marrow transplantation

Author keywords

[No Author keywords available]

Indexed keywords

UROPORPHYRINOGEN III SYNTHASE;

EID: 0030419857     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(96)70082-3     Document Type: Article
Times cited : (52)

References (20)
  • 1
    • 0000016355 scopus 로고
    • The porphyrias
    • A Kappas S Sassa R Galbraith Y Nordmann The porphyrias C Scriver A Beaudet W Sly D Valle The metabolic and molecular bases of inherited Chalew, Phillip, and KowarskiChalew, Phillip, and Kowarskidisease 1995 McGraw-Hill New York 2103 2159
    • (1995) , pp. 2103-2159
    • Kappas, A1    Sassa, S2    Galbraith, R3    Nordmann, Y4
  • 2
    • 0014549043 scopus 로고
    • Uroporphyrinogen III cosynthetase in human congenital erythropoietic porphyria
    • G Romeo EY Levin Uroporphyrinogen III cosynthetase in human congenital erythropoietic porphyria Proc Natl Acad Sci USA 63 1969 856 863
    • (1969) Proc Natl Acad Sci USA , vol.63 , pp. 856-863
    • Romeo, G1    Levin, EY2
  • 3
    • 0023723106 scopus 로고
    • Human uroporphyrinogen III synthetase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA
    • S Tsai D Bishop R Desnick Human uroporphyrinogen III synthetase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA Proc Natl Acad Sci USA 85 1988 7049 7053
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7049-7053
    • Tsai, S1    Bishop, D2    Desnick, R3
  • 4
    • 0025363666 scopus 로고
    • Point mutations in the uroporphyrinogen III synthetase gene in congenital erythropoietic porphyria (Gunther's disease)
    • JC Deybach H De Verneuil B Boulechfar B Grandchamp Y Nordmann Point mutations in the uroporphyrinogen III synthetase gene in congenital erythropoietic porphyria (Gunther's disease) Blood 75 1990 1763 1765
    • (1990) Blood , vol.75 , pp. 1763-1765
    • Deybach, JC1    De Verneuil, H2    Boulechfar, B3    Grandchamp, B4    Nordmann, Y5
  • 5
    • 0026508103 scopus 로고
    • Congenital erythropoietic porphyria: identification and expression of exonic mutation in the uroporphyrinogen III synthetase gene
    • CA Warner HW Yoo AG Roberts RJ Desnick Congenital erythropoietic porphyria: identification and expression of exonic mutation in the uroporphyrinogen III synthetase gene J Clin Invest 89 1992 693 700
    • (1992) J Clin Invest , vol.89 , pp. 693-700
    • Warner, CA1    Yoo, HW2    Roberts, AG3    Desnick, RJ4
  • 6
    • 0026580189 scopus 로고
    • Heterogeneity of mutations in the uroporphyrinogen III synthetase gene in congenital erythropoietic porphyria
    • S Boulechfar V Da Silva J Deybach Y Nordmann B Grandchamp H Verneuil Heterogeneity of mutations in the uroporphyrinogen III synthetase gene in congenital erythropoietic porphyria Hum Genet 88 1995 320 324
    • (1995) Hum Genet , vol.88 , pp. 320-324
    • Boulechfar, S1    Da Silva, V2    Deybach, J3    Nordmann, Y4    Grandchamp, B5    Verneuil, H6
  • 7
    • 0029037114 scopus 로고
    • Identification of two new mutations in congenital erythropoietic porphyria
    • M Bensidhoum C Ged I Hombrados Identification of two new mutations in congenital erythropoietic porphyria Eur J Hum Genet 3 1995 102 107
    • (1995) Eur J Hum Genet , vol.3 , pp. 102-107
    • Bensidhoum, M1    Ged, C2    Hombrados, I3
  • 8
    • 0028876657 scopus 로고
    • Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthetase gene
    • W Xu C Warner R Desnick Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthetase gene J Clin Invest 95 1995 905 912
    • (1995) J Clin Invest , vol.95 , pp. 905-912
    • Xu, W1    Warner, C2    Desnick, R3
  • 9
    • 0023019425 scopus 로고
    • Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions
    • S Piomelli M Poh-Fitzpatrick C Seaman L Skolnick W Berdon Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions N Engl J Med 314 1986 1029 1031
    • (1986) N Engl J Med , vol.314 , pp. 1029-1031
    • Piomelli, S1    Poh-Fitzpatrick, M2    Seaman, C3    Skolnick, L4    Berdon, W5
  • 10
    • 0014339988 scopus 로고
    • Congenital erythropoietic porphyria: case report, special study and therapy
    • RG Haining M Cowger D Shurtleff R Labbe Congenital erythropoietic porphyria: case report, special study and therapy Am J Med 45 1968 624 637
    • (1968) Am J Med , vol.45 , pp. 624-637
    • Haining, RG1    Cowger, M2    Shurtleff, D3    Labbe, R4
  • 11
    • 0023123855 scopus 로고
    • Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria
    • N Pimstome S Gandhi S Mukerji Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria N Engl J Med 316 1987 390 393
    • (1987) N Engl J Med , vol.316 , pp. 390-393
    • Pimstome, N1    Gandhi, S2    Mukerji, S3
  • 12
    • 0028281825 scopus 로고
    • Hydroxyurea in congenital erythropoetic porphyria
    • L Guarini S Piomelli Hydroxyurea in congenital erythropoetic porphyria N Engl J Med 330 1994 1091 1092
    • (1994) N Engl J Med , vol.330 , pp. 1091-1092
    • Guarini, L1    Piomelli, S2
  • 13
    • 0025875777 scopus 로고
    • Bone marrow transplantation for congenital erythropoietic porphyria
    • L Kauffman D Evans R Stevens C Weinkove Bone marrow transplantation for congenital erythropoietic porphyria Lancet 337 1991 1510 1511
    • (1991) Lancet , vol.337 , pp. 1510-1511
    • Kauffman, L1    Evans, D2    Stevens, R3    Weinkove, C4
  • 14
    • 0025968683 scopus 로고
    • Analysis of the VNTR locus D1S80 by the PCR followed by high resolution PAGE
    • B Budowle R Chakraborty A Giusti A Eisenberg R Allen Analysis of the VNTR locus D1S80 by the PCR followed by high resolution PAGE Am J Hum Genet 48 1991 137 144
    • (1991) Am J Hum Genet , vol.48 , pp. 137-144
    • Budowle, B1    Chakraborty, R2    Giusti, A3    Eisenberg, A4    Allen, R5
  • 15
    • 0025070260 scopus 로고
    • Bone marrow transplantation in patients with thalassemia
    • G Lucarelli M Galinberti P Polchi Bone marrow transplantation in patients with thalassemia N Engl J Med 322 1990 417 421
    • (1990) N Engl J Med , vol.322 , pp. 417-421
    • Lucarelli, G1    Galinberti, M2    Polchi, P3
  • 16
    • 0023880839 scopus 로고
    • Bone marrow transplantation in five children with sickle cell anaemia
    • C Vermylen E Robles J Ninane G Cornu Bone marrow transplantation in five children with sickle cell anaemia Lancet 1 1988 1427 1428
    • (1988) Lancet , vol.1 , pp. 1427-1428
    • Vermylen, C1    Robles, E2    Ninane, J3    Cornu, G4
  • 17
    • 0028078755 scopus 로고
    • Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency
    • A Fischer P Landais W Friedrich Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than combined immunodeficiency: a report from the European Group for BMT and the European Group for Immunodeficiency Blood 83 1994 1149 1154
    • (1994) Blood , vol.83 , pp. 1149-1154
    • Fischer, A1    Landais, P2    Friedrich, W3
  • 18
    • 0029634283 scopus 로고
    • Allogeneic bone marrow transplantation for lysosomal storage diseases
    • P Hoogerbrugge O Brouwer P Bordigoni Allogeneic bone marrow transplantation for lysosomal storage diseases Lancet 345 1995 1398 1402
    • (1995) Lancet , vol.345 , pp. 1398-1402
    • Hoogerbrugge, P1    Brouwer, O2    Bordigoni, P3
  • 20
    • 0028953735 scopus 로고
    • Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus transformed B cell lines
    • F Moreau-Gaudry F Mazurier M Bensidhoum C Ged H de Verneuil Metabolic correction of congenital erythropoietic porphyria by retrovirus-mediated gene transfer into Epstein-Barr virus transformed B cell lines Blood 85 1995 144953
    • (1995) Blood , vol.85 , pp. 144953
    • Moreau-Gaudry, F1    Mazurier, F2    Bensidhoum, M3    Ged, C4    de Verneuil, H5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.