先天性アミノ酸輸送障害
WordNet
- move something or somebody around; usually over long distances
- an exchange of molecules (and their kinetic energy and momentum) across the boundary between adjacent layers of a fluid or across cell membranes
- move while supporting, either in a vehicle or in ones hands or on ones body; "You must carry your camping gear"; "carry the suitcases to the car"; "This train is carrying nuclear waste"; "These pipes carry waste water into the river" (同)carry
- transport commercially (同)send, ship
- bring disorder to (同)disarray
- a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
- a disturbance of the peace or of public order
- street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
- any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
- having the characteristics of an acid; "an acid reaction"
- pertaining to or containing any of a group of organic compounds of nitrogen derived from ammonia (同)aminic
- the radical -NH2 (同)amino_group
PrepTutorEJDIC
- (ある場所からある場所へ)…‘を'『輸送する』,運搬する《+名+from+名+to+名》 / 《文》《受動態で》(…で)…‘を'夢中にする,有頂天にする《+名+with+名》 / 〈罪人〉‘を'流刑にする / 〈U〉輸送,運送,輸送(交通)機関(transportation) / 〈C〉(軍隊や軍需品を運ぶ)輸送船,輸送機
- 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
- 酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
- 生まれつきの,先天的な
UpToDate Contents
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English Journal
- A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
- Ersoy Tunalı N1, Marobbio CM2, Tiryakioğlu NO3, Punzi G2, Saygılı SK4, Onal H5, Palmieri F6.
- Molecular genetics and metabolism.Mol Genet Metab.2014 May;112(1):25-9. doi: 10.1016/j.ymgme.2014.03.002. Epub 2014 Mar 20.
- The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in
- PMID 24721342
- Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
- Jackson CB1, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A.
- Journal of medical genetics.J Med Genet.2014 Mar;51(3):170-5. doi: 10.1136/jmedgenet-2013-101932. Epub 2013 Dec 23.
- BACKGROUND: Defects of the mitochondrial respiratory chain complex II (succinate dehydrogenase (SDH) complex) are extremely rare. Of the four nuclear encoded proteins composing complex II, only mutations in the 70 kDa flavoprotein (SDHA) and the recently identified complex II assembly factor (SDHAF1
- PMID 24367056
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome: a treatable genetic liver disease warranting urgent diagnosis.
- Lee HH1, Poon KH, Lai CK, Au KM, Siu TS, Lai JP, Mak CM, Yuen YP, Lam CW, Chan AY.
- Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine.Hong Kong Med J.2014 Feb;20(1):63-6. doi: 10.12809/hkmj133826.
- Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is an autosomal recessive disorder caused by a defect in ornithine translocase. This condition leads to variable clinical presentations, including episodic hyperammonaemia, hepatic derangement, and chronic neurological manifestations. Few
- PMID 24473688
Japanese Journal
- 先天性アミノ酸代謝異常症に伴う高アンモニア血症の成因に関する研究 第II編 二塩基性アミノ酸尿症に伴う高アンモニア血症の成因
Related Links
- Genomes and Genes, Species, Research Topics, Scientific Experts, Publications about inborn amino acid transport disorders ... Summary: Disorders characterized by defective transport of amino acids across cell membranes.
- Amino Acid Transport Disorders, Inborn; Transport Disorders, Amino Acid, Inborn. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure ...
★リンクテーブル★
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- 英
- inborn amino acid transport disorder
[★]
- 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
- an untidy state; a lack of order or organization (⇔order)
- violent behaviour of large groups of people
- an illness that cause a part of the body to stop functioning correctly
- disease <> illness <> disorder
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
[★]
- 関
- bring、carriage、carry、convey、delivery、ship、traffic、trafficking、transportation
[★]
- 関
- a priori、congenital、congenitally