古典的フェニルケトン尿症
- 関
- atypical phenylketonuria、phenylketonuria
WordNet
- of or relating to the study of the literary works of ancient Greece and Rome; " a classical scholar"
- of or relating to the most highly developed stage of an earlier civilisation and its culture; "classic Cinese pottery" (同)classic
- of or pertaining to or characteristic of the ancient Greek and Roman cultures; "classical mythology"; "classical (同)classic, Greco-Roman, Graeco-Roman, Hellenic
- (language) having the form used by ancient standard authors; "classical Greek
- a creation of the highest excellence
- an artist who has created classic works
- a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency (同)PKU
PrepTutorEJDIC
- 古典の;古典時代の;古典様式の / (文学・芸術において)古典主義の(簡潔で調和を保ち洗練されているのが特徴) / (ジャズ・フォークなどに対して主として20世紀初頭までの)古典派の / (新奇な・実験的なものではなく)伝統的な,正統的な / (専門科目に対して)教養科目の
- (一つの分野の中で)『規範となる』,典型的な;第1級の / 伝統的な,由緒のある(traditional) / (型・様式などについて)単純で洗練された / 古典の;古典的な(classical) / 〈C〉(一つの分野の中で)『規範』(『模範』)『となる作品』,代表作 / 〈C〉代表的芸術家,古典的作家 / 《the classics》《しばしばC-》古典文学 / 〈C〉伝統的な(由緒ある)行事
UpToDate Contents
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English Journal
- Inherited metabolic disorders in Turkish patients with autism spectrum disorders.
- Kiykim E1, Zeybek CA1, Zubarioglu T1, Cansever S1, Yalcinkaya C2, Soyucen E1, Aydin A1.
- Autism research : official journal of the International Society for Autism Research.Autism Res.2015 Jun 7. doi: 10.1002/aur.1507. [Epub ahead of print]
- Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology of ASD remains unclear, although genetic defects may be detected in 10-20% of affected patients. Among these cases, the prevalence of inherited metabolic disord
- PMID 26055667
- Altered DNA methylation in PAH deficient phenylketonuria.
- Dobrowolski SF1, Lyons-Weiler J2, Spridik K3, Biery A3, Breck J4, Vockley J4, Yatsenko S5, Sultana T2.
- Molecular genetics and metabolism.Mol Genet Metab.2015 Jun-Jul;115(2-3):72-7. doi: 10.1016/j.ymgme.2015.04.002. Epub 2015 Apr 24.
- While phenylalanine (PHE) is the toxic insult in phenylketonuria (PKU), mechanisms underlying PHE toxicity remain ill-defined. Altered DNA methylation in response to toxic exposures is well-recognized. DNA methylation patterns were assessed in blood and brain from PKU patients to determine if PHE to
- PMID 25990862
- A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
- Maruo Y1, Suzaki M, Matsui K, Mimura Y, Mori A, Shintaku H, Takeuchi Y.
- World journal of pediatrics : WJP.World J Pediatr.2015 May;11(2):181-4. doi: 10.1007/s12519-015-0020-8. Epub 2015 Apr 30.
- BACKGROUND: Phenylketonuria (PKU) is caused by a defect in phenylalanine hydroxylase (PAH). More than 500 mutations have been reported for the gene encoding PAH. However, approximately 1%-5% of these include large deletions and large duplications that cannot be detected by conventional methods.METHO
- PMID 25920592
Japanese Journal
- Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
- NAGASAKA Hironori,TSUKAHARA Hirokazu,TAKATANI Tomozumi,SANAYAMA Yoshitami,TAKAYANAGI Masaki,OHURA Toshihiro,SAKAMOTO Osamu,ITO Tetsuya,WADA Mika,YOSHINO Makoto,OHTAKE Akira,YORIFUJI Tohru,HIRAYAMA Satoshi,MIIDA Takashi,FUJIMOTO Hiroki,MOCHIZUKI Hiroshi,HATTORI Toshikazu,OKANO Yoshiyuki
- Journal of bone and mineral metabolism 29(6), 737-743, 2011-11-30
- NAID 10030895367
- 臨床研究・症例報告 古典型フェニルケトン尿症の1例--遺伝子検査によるBH4反応性の早期鑑別
- Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
Related Links
- Phenylketonuria Definition Phenylketonuria (PKU) can be defined as a rare metabolic disorder caused by a deficiency in the production of the hepatic (liver) enzyme phenylalanine hydroxylase (PAH). PKU is the most serious form of a ...
- Classical Phenylketonuria synonyms, Classical Phenylketonuria antonyms. Information about Classical Phenylketonuria in the free online English dictionary and encyclopedia. Classical Phenylketonuria - definition of Classical ...
Related Pictures
★リンクテーブル★
[★]
- 英
- classical phenylketonuria
- 関
- フェニルケトン尿症、異型高フェニルアラニン血症
[★]
異型高フェニルアラニン血症
- 関
- classical phenylketonuria、phenylketonuria
[★]
- 関
- classical、classically、traditional、traditionally
[★]
- 関
- classic、classically
[★]
フェニルケトン尿症 PKU