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Journal Abstract Search

231 related items for PubMed ID: 12819610

  • 1. [Corneoscleral involvement in congenital erythropoietic porphyria. Günther disease].
    Arné JL, Depeyre C, Lesueur L.
    J Fr Ophtalmol; 2003 May; 26(5):498-502. PubMed ID: 12819610
    [Abstract] [Full Text] [Related]

  • 2. Ocular complication in congenital erythropoietic porphyria.
    Tanigawa K, Takamura N, Nakata K, Nagataki S, Yamashita S.
    Ophthalmologica; 1996 May; 210(3):183-5. PubMed ID: 8738466
    [Abstract] [Full Text] [Related]

  • 3. Ocular involvement in two symptomatic congenital erythropoietic porphyria.
    Oguz F, Sidal M, Bayram C, Sansoy N, Hekim N.
    Eur J Pediatr; 1993 Aug; 152(8):671-3. PubMed ID: 8404971
    [Abstract] [Full Text] [Related]

  • 4. [Congenital erythropoietic porphyria].
    Tanigawa K, Takamura N, Yamashita S.
    Nihon Rinsho; 1995 Jun; 53(6):1422-6. PubMed ID: 7616657
    [Abstract] [Full Text] [Related]

  • 5. Ocular manifestations in patient with congenital erythropoietic porphyria.
    Isanta-Otal C, López-Valverde G, Orobia AJM, Pablo LE.
    Indian J Ophthalmol; 2019 Oct; 67(10):1765-1768. PubMed ID: 31546559
    [Abstract] [Full Text] [Related]

  • 6. Bilateral scleromalacia in a case of congenital erythropoietic porphyria.
    Bandyopadhyay R, Bhaduri G, Banerjee A, Dasgupta A, Bandyopadhyay M, Purkait S, Singh M.
    J Indian Med Assoc; 2006 Jul; 104(7):406-7. PubMed ID: 17240817
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetics of congenital erythropoietic porphyria.
    Desnick RJ, Glass IA, Xu W, Solis C, Astrin KH.
    Semin Liver Dis; 1998 Jul; 18(1):77-84. PubMed ID: 9516681
    [Abstract] [Full Text] [Related]

  • 8. [Scleromalacia in congenital erythropoietic porphyria: a case report].
    Hafidi Z, Handor H, Berradi S, Lezrek M, Derrar R, Belmokhtar A, Khalil S, Regragui A, Elouarradi H, Daoudi R.
    J Fr Ophtalmol; 2014 Sep; 37(7):e113-4. PubMed ID: 25012974
    [No Abstract] [Full Text] [Related]

  • 9. Congenital erythropoietic porphyria: Recent advances.
    Erwin AL, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):288-297. PubMed ID: 30685241
    [Abstract] [Full Text] [Related]

  • 10. Congenital erythropoietic porphyria in two siblings.
    Jacobo A, Almeida HL, Jorge VM.
    Dermatol Online J; 2005 Dec 01; 11(3):15. PubMed ID: 16409911
    [Abstract] [Full Text] [Related]

  • 11. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature.
    Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M.
    Bone Marrow Transplant; 2001 Jan 01; 27(1):101-5. PubMed ID: 11244446
    [Abstract] [Full Text] [Related]

  • 12. Congenital erythropoietic porphyria: a case report.
    Chiewchanvit S, Mahanupab P, Vanittanakom P.
    J Med Assoc Thai; 1998 Dec 01; 81(12):1023-7. PubMed ID: 9916395
    [Abstract] [Full Text] [Related]

  • 13. Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria.
    Faraci M, Morreale G, Boeri E, Lanino E, Dallorso S, Dini G, Scuderi F, Cohen A, Cappelli B.
    Pediatr Transplant; 2008 Feb 01; 12(1):117-20. PubMed ID: 18186900
    [Abstract] [Full Text] [Related]

  • 14. Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.
    Baran M, Eliaçık K, Kurt I, Kanık A, Zengin N, Bakiler AR.
    Turk J Pediatr; 2013 Feb 01; 55(2):218-21. PubMed ID: 24192686
    [Abstract] [Full Text] [Related]

  • 15. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
    Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV.
    Br J Dermatol; 2012 Oct 01; 167(4):901-13. PubMed ID: 22816431
    [Abstract] [Full Text] [Related]

  • 16. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.
    Kontos AP, Ozog D, Bichakjian C, Lim HW.
    Br J Dermatol; 2003 Jan 01; 148(1):160-4. PubMed ID: 12534613
    [Abstract] [Full Text] [Related]

  • 17. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease).
    Dupuis-Girod S, Akkari V, Ged C, Galambrun C, Kebaïli K, Deybach JC, Claudy A, Geburher L, Philippe N, de Verneuil H, Bertrand Y.
    Eur J Pediatr; 2005 Feb 01; 164(2):104-7. PubMed ID: 15703981
    [Abstract] [Full Text] [Related]

  • 18. Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
    Di Pierro E, Brancaleoni V, Granata F.
    Br J Haematol; 2016 May 01; 173(3):365-79. PubMed ID: 26969896
    [Abstract] [Full Text] [Related]

  • 19. Late onset erythropoietic porphyria (Gunther's disease).
    Rao SU, Dar NR, Abbas M, Mumtaz J.
    J Coll Physicians Surg Pak; 2011 Sep 01; 21(9):564-6. PubMed ID: 21914417
    [Abstract] [Full Text] [Related]

  • 20. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
    Frank J, Wang X, Lam HM, Aita VM, Jugert FK, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM.
    Ann Hum Genet; 1998 May 01; 62(Pt 3):225-30. PubMed ID: 9803266
    [Abstract] [Full Text] [Related]

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