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Items: 1 to 20 of 176

1.

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD.

Proc Natl Acad Sci U S A. 1995 Mar 28;92(7):2539-43.

2.

The copper-iron connection: hereditary aceruloplasminemia.

Nittis T, Gitlin JD.

Semin Hematol. 2002 Oct;39(4):282-9. Review.

PMID:
12382203
3.

[Aceruloplasminemia].

Miyajima H.

Rinsho Shinkeigaku. 2000 Dec;40(12):1290-2. Review. Japanese.

PMID:
11464482
4.

Aceruloplasminemia, an inherited disorder of iron metabolism.

Miyajima H, Takahashi Y, Kono S.

Biometals. 2003 Mar;16(1):205-13.

PMID:
12572680
5.

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

Takahashi Y, Miyajima H, Shirabe S, Nagataki S, Suenaga A, Gitlin JD.

Hum Mol Genet. 1996 Jan;5(1):81-84.

PMID:
8789443
6.

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.

Harris ZL, Klomp LW, Gitlin JD.

Am J Clin Nutr. 1998 May;67(5 Suppl):972S-977S. Review.

PMID:
9587138
7.

Increased plasma lipid peroxidation in patients with aceruloplasminemia.

Miyajima H, Takahashi Y, Serizawa M, Kaneko E, Gitlin JD.

Free Radic Biol Med. 1996;20(5):757-60.

PMID:
8721620
8.

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.

Xu X, Pin S, Gathinji M, Fuchs R, Harris ZL.

Ann N Y Acad Sci. 2004 Mar;1012:299-305. Review.

PMID:
15105274
9.

Aceruloplasminemia, an iron metabolic disorder.

Miyajima H.

Neuropathology. 2003 Dec;23(4):345-50.

PMID:
14719552
10.

Aceruloplasminemia.

Gitlin JD.

Pediatr Res. 1998 Sep;44(3):271-6. Review.

PMID:
9727700
11.

Estimation of the gene frequency of aceruloplasminemia in Japan.

Miyajima H, Kohno S, Takahashi Y, Yonekawa O, Kanno T.

Neurology. 1999 Aug 11;53(3):617-9.

PMID:
10449129
12.

A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.

Yazaki M, Yoshida K, Nakamura A, Furihata K, Yonekawa M, Okabe T, Yamashita N, Ohta M, Ikeda S.

J Neurol Sci. 1998;156(1):30-4.

PMID:
9559983
13.

Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.

Kono S, Suzuki H, Takahashi K, Takahashi Y, Shirakawa K, Murakawa Y, Yamaguchi S, Miyajima H.

Gastroenterology. 2006 Jul;131(1):240-5.

PMID:
16831606
14.

Redox active iron accumulation in aceruloplasminemia.

Gonzalez-Cuyar LF, Perry G, Miyajima H, Atwood CS, Riveros-Angel M, Lyons PF, Siedlak SL, Smith MA, Castellani RJ.

Neuropathology. 2008 Oct;28(5):466-71. doi: 10.1111/j.1440-1789.2008.00901.x. Epub 2008 Feb 15.

PMID:
18282164
15.

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.

16.

Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia.

Hofmann WP, Welsch C, Takahashi Y, Miyajima H, Mihm U, Krick C, Zeuzem S, Sarrazin C.

Scand J Gastroenterol. 2007 Sep;42(9):1088-94.

PMID:
17710675
17.

Hereditary ceruloplasmin deficiency with hemosiderosis.

Okamoto N, Wada S, Oga T, Kawabata Y, Baba Y, Habu D, Takeda Z, Wada Y.

Hum Genet. 1996 Jun;97(6):755-8.

PMID:
8641692
18.

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux.

Harris ZL, Durley AP, Man TK, Gitlin JD.

Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10812-7.

19.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
20.

Aceruloplasminemia.

Kono S.

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

PMID:
22515740

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