WordNet
- (baseball) a failure of a defensive player to make an out when normal play would have sufficed (同)misplay
- departure from what is ethically acceptable (同)wrongdoing
- (computer science) the occurrence of an incorrect result produced by a computer (同)computer error
- a misconception resulting from incorrect information (同)erroneous belief
- part of a statement that is not correct; "the book was full of errors" (同)mistake
- cover with metal
- to make a mistake or be incorrect (同)mistake, slip
- the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process
PrepTutorEJDIC
- 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
- 〈C〉『誤り』,『まちがい』 / 〈U〉思い違い,誤解 / 〈U〉〈C〉過ち,過失 / 〈U〉(計数の)誤差 / 〈C〉(野球で)エラー,失策
- 〈C〉(個々の)『金属』;〈U〉(材料としての)金属 / 〈U〉合金(真ちゅう,真銅など) / 〈U〉気性,気質 / 〈U〉《英》(舗装用・鉄道用の)砕石 / …‘に'金属をかぶせる / 《英》〈道路〉‘に'砕石を敷く
- (判断・考え方・選択などで)『誤る』,まちがえる;過ちを犯す,罪を犯す《+『in』+『名』(do『ing』)》 / (正道・目的などから)それる,逸脱する《+『from』+『名』》
- 新陳代謝,物質交代
UpToDate Contents
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- 1. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
- 2. 先天性代謝異常：分類 inborn errors of metabolism classification
- 3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
- 4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
- 5. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
English Journal
- Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
- Dusi S1, Valletta L1, Haack TB2, Tsuchiya Y3, Venco P1, Pasqualato S4, Goffrini P5, Tigano M5, Demchenko N3, Wieland T6, Schwarzmayr T6, Strom TM2, Invernizzi F1, Garavaglia B1, Gregory A7, Sanford L7, Hamada J7, Bettencourt C8, Houlden H8, Chiapparini L9, Zorzi G10, Kurian MA11, Nardocci N10, Prokisch H2, Hayflick S7, Gout I3, Tiranti V12.
- American journal of human genetics.Am J Hum Genet.2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008. Epub 2013 Dec 19.
- Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders with progressive extrapyramidal signs and neurological deterioration, characterized by iron accumulation in the basal ganglia. Exome sequencing revealed the presence of reces
- PMID 24360804
- Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
- Bayram E1, Topcu Y, Karakaya P, Yis U, Cakmakci H, Ichida K, Kurul SH.
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2013 Jan;17(1):1-6. doi: 10.1016/j.ejpn.2012.10.003. Epub 2012 Oct 31.
- Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority
- PMID 23122324
- Metabolism of molybdenum.
- Mendel RR1.
- Metal ions in life sciences.Met Ions Life Sci.2013;12:503-28. doi: 10.1007/978-94-007-5561-1_15.
- The transition element molybdenum is of essential importance for (nearly) all biological systems. It needs to be complexed by a special cofactor in order to gain catalytic activity. With the exception of bacterial Mo-nitrogenase, where Mo is a constituent of the FeMo-cofactor, Mo is bound to a pteri
- PMID 23595682
Related Links
- FAQ • Metal Metabolism, Inborn Errors. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is ...
- Scientific Experts, Publications, Research Grants, Research Topics, Species, Genomes and Genes about inborn errors metal metabolism ... ..Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 ...
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★リンクテーブル★
| リンク元 | 「先天性金属代謝異常」 |
| 関連記事 | 「meta」「error」「inborn」「metal」「met」 |
「先天性金属代謝異常」
「meta」
- 同
- metastasis, ガン転移
- pref.
- 後続、後位。変化、変成。超越、一段と高い段階の。～の異性体。変性によって得られた、無水～の
- ex.
「error」
- n.
「inborn」
- adj.
- 先天的な
「metal」
- n.
- adj.
- 金属の
「met」
- meetの過去形
- →meta
- methionine