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    Results: 1 to 20 of 21

    1.

    Clinicopathological study of Japanese patients with genetic iron overload syndromes.

    Hattori A, Miyajima H, Tomosugi N, Tatsumi Y, Hayashi H, Wakusawa S.

    Pathol Int. 2012 Sep;62(9):612-8. doi: 10.1111/j.1440-1827.2012.02848.x.

    PMID:
    22924847
    [PubMed - indexed for MEDLINE]
    2.

    Syndromes of neurodegeneration with brain iron accumulation.

    Schneider SA, Bhatia KP.

    Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. Review.

    PMID:
    22704258
    [PubMed - indexed for MEDLINE]
    3.

    Aceruloplasminemia.

    Kono S.

    Curr Drug Targets. 2012 Aug;13(9):1190-9. Review.

    PMID:
    22515740
    [PubMed - indexed for MEDLINE]
    4.

    Iron dysregulation in movement disorders.

    Dusek P, Jankovic J, Le W.

    Neurobiol Dis. 2012 Apr;46(1):1-18. doi: 10.1016/j.nbd.2011.12.054. Epub 2012 Jan 12. Review.

    PMID:
    22266337
    [PubMed - indexed for MEDLINE]
    5.

    Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

    Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

    Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

    PMID:
    22243965
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Aceruloplasminemia: retinal histopathologic manifestations and iron-mediated melanosome degradation.

    Wolkow N, Song Y, Wu TD, Qian J, Guerquin-Kern JL, Dunaief JL.

    Arch Ophthalmol. 2011 Nov;129(11):1466-74. doi: 10.1001/archophthalmol.2011.309.

    PMID:
    22084216
    [PubMed - indexed for MEDLINE]
    7.

    The transfer of iron between ceruloplasmin and transferrins.

    White KN, Conesa C, Sánchez L, Amini M, Farnaud S, Lorvoralak C, Evans RW.

    Biochim Biophys Acta. 2012 Mar;1820(3):411-6. doi: 10.1016/j.bbagen.2011.10.006. Epub 2011 Oct 25. Review.

    PMID:
    22040722
    [PubMed - indexed for MEDLINE]
    8.

    Non-HFE hepatic iron overload.

    Pietrangelo A, Caleffi A, Corradini E.

    Semin Liver Dis. 2011 Aug;31(3):302-18. doi: 10.1055/s-0031-1286061. Epub 2011 Sep 7. Review.

    PMID:
    21901660
    [PubMed - indexed for MEDLINE]
    9.

    Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness.

    Kaneko K, Hineno A, Yoshida K, Ohara S, Morita H, Ikeda S.

    Hum Pathol. 2012 Mar;43(3):451-6. doi: 10.1016/j.humpath.2011.05.016. Epub 2011 Sep 1.

    PMID:
    21889188
    [PubMed - indexed for MEDLINE]
    10.

    Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging.

    Schipper HM.

    Biochim Biophys Acta. 2012 Mar;1822(3):350-60. doi: 10.1016/j.bbadis.2011.06.016. Epub 2011 Jul 13. Review.

    PMID:
    21782937
    [PubMed - indexed for MEDLINE]
    11.

    Criteria for early identification of aceruloplasminemia.

    Ogimoto M, Anzai K, Takenoshita H, Kogawa K, Akehi Y, Yoshida R, Nakano M, Yoshida K, Ono J.

    Intern Med. 2011;50(13):1415-8. Epub 2011 Jul 1.

    PMID:
    21720062
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Bmp6 regulates retinal iron homeostasis and has altered expression in age-related macular degeneration.

    Hadziahmetovic M, Song Y, Wolkow N, Iacovelli J, Kautz L, Roth MP, Dunaief JL.

    Am J Pathol. 2011 Jul;179(1):335-48. doi: 10.1016/j.ajpath.2011.03.033. Epub 2011 May 3.

    PMID:
    21703414
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up.

    Pan PL, Tang HH, Chen Q, Song W, Shang HF.

    Mov Disord. 2011 Sep;26(11):2142-4. doi: 10.1002/mds.23797. Epub 2011 May 18. No abstract available.

    PMID:
    21594898
    [PubMed - indexed for MEDLINE]
    14.

    Neurodegeneration with brain iron accumulation.

    McNeill A, Chinnery PF.

    Handb Clin Neurol. 2011;100:161-72. doi: 10.1016/B978-0-444-52014-2.00009-4. Review.

    PMID:
    21496576
    [PubMed - indexed for MEDLINE]
    15.

    Aceruloplasminemia in a Japanese woman with a novel mutation of CP gene: clinical presentations and analysis of genetic and molecular pathogenesis.

    Hida A, Kowa H, Iwata A, Tanaka M, Kwak S, Tsuji S.

    J Neurol Sci. 2010 Nov 15;298(1-2):136-9. doi: 10.1016/j.jns.2010.08.019. Epub 2010 Sep 15.

    PMID:
    20828764
    [PubMed - indexed for MEDLINE]
    16.

    Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.

    Finkenstedt A, Wolf E, Höfner E, Gasser BI, Bösch S, Bakry R, Creus M, Kremser C, Schocke M, Theurl M, Moser P, Schranz M, Bonn G, Poewe W, Vogel W, Janecke AR, Zoller H.

    J Hepatol. 2010 Dec;53(6):1101-7. doi: 10.1016/j.jhep.2010.04.039. Epub 2010 Aug 4.

    PMID:
    20801540
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.

    Watanabe M, Asai C, Ishikawa K, Kiyota A, Terada T, Kono S, Miyajima H, Okumura A.

    Intern Med. 2010;49(15):1581-5. Epub 2010 Aug 2.

    PMID:
    20686294
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin.

    Kono S, Yoshida K, Tomosugi N, Terada T, Hamaya Y, Kanaoka S, Miyajima H.

    Biochim Biophys Acta. 2010 Nov;1802(11):968-75. doi: 10.1016/j.bbadis.2010.07.011. Epub 2010 Jul 22.

    PMID:
    20655381
    [PubMed - indexed for MEDLINE]
    19.

    Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders.

    Kaneko Y, Miyajima H, Piperno A, Tomosugi N, Hayashi H, Morotomi N, Tsuchida K, Ikeda T, Ishikawa A, Ota Y, Wakusawa S, Yoshioka K, Kono S, Pelucchi S, Hattori A, Tatsumi Y, Okada T, Yamagishi M.

    J Gastroenterol. 2010 Nov;45(11):1163-71. doi: 10.1007/s00535-010-0259-8. Epub 2010 Jun 9.

    PMID:
    20533066
    [PubMed - indexed for MEDLINE]
    20.

    Hepatic iron overload or cirrhosis may occur in acquired copper deficiency and is likely mediated by hypoceruloplasminemia.

    Thackeray EW, Sanderson SO, Fox JC, Kumar N.

    J Clin Gastroenterol. 2011 Feb;45(2):153-8. doi: 10.1097/MCG.0b013e3181dc25f7.

    PMID:
    20502350
    [PubMed - indexed for MEDLINE]

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