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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-11-2
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pubmed:abstractText |
Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus. Ceruloplasmin is a multi-copper ferroxidase that is secreted into plasma and facilitates cellular iron export and iron binding to transferrin.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0168-8278
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pubmed:author |
pubmed-author:BöschSylviaS,
pubmed-author:BakryRaniaR,
pubmed-author:BonnGuentherG,
pubmed-author:CreusMarcM,
pubmed-author:FinkenstedtArminA,
pubmed-author:GasserBethina IsasiBI,
pubmed-author:HöfnerElmarE,
pubmed-author:JaneckeAndreas RAR,
pubmed-author:KremserChristianC,
pubmed-author:MoserPatriziaP,
pubmed-author:PoeweWernerW,
pubmed-author:SchockeMichaelM,
pubmed-author:SchranzMelanieM,
pubmed-author:TheurlMilanM,
pubmed-author:VogelWolfgangW,
pubmed-author:WolfElisabethE,
pubmed-author:ZollerHeinzH
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pubmed:copyrightInfo |
Copyright © 2010 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
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pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1101-7
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pubmed:meshHeading |
pubmed-meshheading:20801540-Antimicrobial Cationic Peptides,
pubmed-meshheading:20801540-Benzoic Acids,
pubmed-meshheading:20801540-Brain,
pubmed-meshheading:20801540-Ceruloplasmin,
pubmed-meshheading:20801540-Consanguinity,
pubmed-meshheading:20801540-Female,
pubmed-meshheading:20801540-Homozygote,
pubmed-meshheading:20801540-Humans,
pubmed-meshheading:20801540-Iron,
pubmed-meshheading:20801540-Iron Chelating Agents,
pubmed-meshheading:20801540-Iron Metabolism Disorders,
pubmed-meshheading:20801540-Liver,
pubmed-meshheading:20801540-Male,
pubmed-meshheading:20801540-Middle Aged,
pubmed-meshheading:20801540-Mutation,
pubmed-meshheading:20801540-Neurodegenerative Diseases,
pubmed-meshheading:20801540-Pedigree,
pubmed-meshheading:20801540-RNA, Messenger,
pubmed-meshheading:20801540-Triazoles
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pubmed:year |
2010
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pubmed:articleTitle |
Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.
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pubmed:affiliation |
Department of Medicine II Gastroenterology and Hepatology, Medical University of Innsbruck, Innsbruck, Austria.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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