先天性アミノ酸代謝異常
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
- 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"
- to make a mistake or be incorrect (同)mistake, slip
- 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
- 《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
- 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
- (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』》
UpToDate Contents
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English Journal
- Delayed diagnosis of phenylketonuria - a case report of two siblings.
- Narayanan D1, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R.
- Annals of clinical biochemistry.Ann Clin Biochem.2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4.
- Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with
- PMID 24097808
- The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric protein.
- Pey AL1, Majtan T2, Kraus JP2.
- Biochimica et biophysica acta.Biochim Biophys Acta.2014 Apr 26. pii: S1570-9639(14)00107-1. doi: 10.1016/j.bbapap.2014.04.015. [Epub ahead of print]
- Human cystathionine β-synthase (hCBS) is a key enzyme of sulfur amino acid metabolism, controlling the commitment of homocysteine to the transsulfuration pathway and antioxidant defense. Mutations in hCBS cause inherited homocystinuria (HCU), a rare inborn error of metabolism characterized by accum
- PMID 24780582
- Phenylketonuria: protein content and amino acids profile of dishes for phenylketonuric patients. The relevance of phenylalanine.
- Pimentel FB1, Alves RC, Costa AS, Torres D, Almeida MF, Oliveira MB.
- Food chemistry.Food Chem.2014 Apr 15;149:144-50. doi: 10.1016/j.foodchem.2013.10.099. Epub 2013 Oct 31.
- Phenylketonuria is an inborn error of metabolism, involving, in most cases, a deficient activity of phenylalanine hydroxylase. Neonatal diagnosis and a prompt special diet (low phenylalanine and natural-protein restricted diets) are essential to the treatment. The lack of data concerning phenylalani
- PMID 24295688
Japanese Journal
- Metabolic Regulation and Transgenic Mouse.
- 森 正敬
- 日本疾患モデル学会記録 10, 3-5, 1994
- … The ornithine-urea cycle is the major pathway for detoxication of ammonia formed in amino acid metabolism and is responsible for nitrogen balance of the body. … The cycle is also involved in biosynthesis of arginine. … Ornithine transcarbamylase (OTC) catalyzes the second among the five enzymatic steps of the cycle. …
- NAID 130000760786
- 先天性アミノ酸代謝異常児血液の薄層クロマトグラフィーによる検査法に関する研究
- The effects of excess amino acids on maintenance of pregnancy and fetal growth in rats.
- 松枝 秀二,新山 喜昭
- Journal of
- … The effects of diets, each with an excess of one essential amino acid, on the maintenance of pregnancy and fetal growth were investigated in rats. … Rats were fed on 6% casein diet containing 5%, threonine, methionine, valine, isoleucine, leucine, tyrosine, phenylalanine, tryptophan, or lysine from day 1 to day 14 or 21 of pregnancy. …
- NAID 130001371503
Related Links
- Alkaptonuria: An Inborn Error of Amino Acid Metabolism NAFEES M. AND MUAZZAM M. Correspondence Address: Dr. Muhammad Nafees, MBBS (Pb), M.Phil (Pb), Ex-consultant Pathologist Department of Pediatrics, Mayo ...
- FAQ • Amino Acid 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 ...
Related Pictures
★リンクテーブル★
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- 英
- aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism
- 同
- アミノ酸代謝異常、先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism
[show details]
アミノ酸代謝異常症
- 国試で出たことが有るレベル
アミノ酸代謝異常で痙攣を呈さないもの
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- 関
- fallacy、mistake
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- 関
- a priori、congenital、congenitally