Art
J-GLOBAL ID:201102268348312700
Reference number:11A1522107
A GC/MS-based metabolomic approach for diagnosing citrin deficiency
シトリン欠損症を診断するためのGC/MSベースの代謝学的アプローチ
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Author (4):
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Material:
Volume:
400
Issue:
7
Page:
1881-1894
Publication year:
Jun. 2011
JST Material Number:
E0425B
ISSN:
1618-2642
Document type:
Article
Article type:
原著論文
Country of issue:
Germany, Federal Republic of (DEU)
Language:
ENGLISH (EN)
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Semi thesaurus term:
Thesaurus term/Semi thesaurus term
Keywords indexed to the article.
All keywords is available on JDreamIII(charged).
On J-GLOBAL, this item will be available after more than half a year after the record posted. In addtion, medical articles require to login to MyJ-GLOBAL.
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JST classification (2):
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Miscellaneous analytical methods of organic compounds
, Metabolic diseases,nutritional diseases in general.
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Reference (40):
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Brusilow SW, Horwich AL (2001) Urea cycle enzymes Chapter 85. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York
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Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 22:159-163
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Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrústegui J, Palmieri F (2001) Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J 20:5060-5069
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Krebs HA, Gascoyne T, Notton BM (1967) Generation of extramitochondrial reducing power in gluconeogenesis. Biochem J 102:275-282
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Saheki T, Kobayashi K (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 47:333-341
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