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Journal Abstract Search

297 related items for PubMed ID: 20691492

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  • 2. A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.
    Koyama C, Wakusawa S, Hayashi H, Ueno T, Suzuki R, Yano M, Saito H, Okazaki T.
    Intern Med; 2005 Sep; 44(9):990-3. PubMed ID: 16258219
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  • 3. Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload.
    Mayr R, Griffiths WJ, Hermann M, McFarlane I, Halsall DJ, Finkenstedt A, Douds A, Davies SE, Janecke AR, Vogel W, Cox TM, Zoller H.
    Gastroenterology; 2011 Jun; 140(7):2056-63, 2063.e1. PubMed ID: 21396368
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  • 5. A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
    Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Am J Hematol; 2014 Jul; 89(7):689-94. PubMed ID: 24644245
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  • 6. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.
    Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE.
    Blood Cells Mol Dis; 2008 Jul; 40(3):353-9. PubMed ID: 17997113
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  • 7. Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
    Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo IT, Gomo ZA, Moyo VM, Rouault TA, MacPhail P, Pietrangelo A.
    Blood Cells Mol Dis; 2003 Jul; 31(3):299-304. PubMed ID: 14636642
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  • 8. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.
    Del-Castillo-Rueda A, Moreno-Carralero MI, Alvarez-Sala-Walther LA, Cuadrado-Grande N, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ.
    Eur J Haematol; 2011 Mar; 86(3):260-4. PubMed ID: 21175851
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  • 9. Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report.
    Nishina S, Tomiyama Y, Ikuta K, Tatsumi Y, Toki Y, Kato A, Kato K, Yoshioka N, Sasaki K, Hara Y, Hino K.
    BMC Gastroenterol; 2021 Mar 05; 21(1):111. PubMed ID: 33673803
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  • 11. Clinical presentation and molecular pathophysiology of autosomal dominant hemochromatosis caused by a novel ferroportin mutation.
    Griffiths WJ, Mayr R, McFarlane I, Hermann M, Halsall DJ, Zoller H, Cox TM.
    Hepatology; 2010 Mar 05; 51(3):788-95. PubMed ID: 19937651
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  • 14. Hyperferritinemia, iron overload, and multiple metabolic alterations identify patients at risk for nonalcoholic steatohepatitis.
    Fargion S, Mattioli M, Fracanzani AL, Sampietro M, Tavazzi D, Fociani P, Taioli E, Valenti L, Fiorelli G.
    Am J Gastroenterol; 2001 Aug 05; 96(8):2448-55. PubMed ID: 11513189
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  • 15. The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
    Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G.
    Haematologica; 2018 Nov 05; 103(11):1796-1805. PubMed ID: 30002125
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  • 19. The ferroportin disease.
    Pietrangelo A.
    Blood Cells Mol Dis; 2004 Nov 05; 32(1):131-8. PubMed ID: 14757427
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