WordNet

not representative of a group, class, or type; "a group that is atypical of the target audience"; "a class of atypical mosses"; "atypical behavior is not the accepted type of response that we expect from children" (同)untypical
deviating from normal expectations; somewhat odd, strange, or abnormal; "these days large families are atypical"; "atypical clinical findings"; "atypical pneumonia"; "highly irregular behavior" (同)irregular
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

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. フェニルケトン尿症の概要 overview of phenylketonuria
2. 知的障害（精神遅滞）のある成人のプライマリケア primary care of the adult with intellectual and developmental disabilities
3. 自閉症スペクトラム障害：用語、疫学および病因 autism spectrum disorder terminology epidemiology and pathogenesis
4. 遺伝性痙性対麻痺 hereditary spastic paraplegia
5. レット症候群：遺伝学、臨床的特徴、診断 rett syndrome genetics clinical features and diagnosis

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Chaiyasap P1, Ittiwut C1,2, Srichomthong C1,2, Sangsin A3, Suphapeetiporn K4,5,6, Shotelersuk V1,2.
BMC medical genetics.BMC Med Genet.2017 Sep 16;18(1):102. doi: 10.1186/s12881-017-0464-x.
PMID 28915855

DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.

Item CB1, Farhadi S2, Schanzer A2, Greber-Platzer S2.
Clinical biochemistry.Clin Biochem.2017 Aug;50(12):729-732. doi: 10.1016/j.clinbiochem.2017.04.001. Epub 2017 Apr 4.
PMID 28389235

Porta F1, Spada M2, Ponzone A2.
Pediatrics.Pediatrics.2017 Aug;140(2). pii: e20161591. doi: 10.1542/peds.2016-1591. Epub 2017 Jul 5.
PMID 28679641

一瀬鷲見千穂,大槻眞嗣,白石弘章 [他],野村隆英
日本薬理学雑誌 118(6), 371-377, 2001-12-01
テトラヒドロビオプテリン((6R)-L-erythrotetrahydrobiopterin, BH4)は生体内でGTPを基質として生合成される. 生合成酵素は, 律速段階であるGTPシクロヒドロラーゼI, 6-ピルボイルテトラヒドロプテリン合成酵素(6-pyruvoyl-tetrahydropterin synthase, PTPS), セピアプテリン還元酵素から成る. BH4生成の異常で生じる …
NAID 10008181412

松尾宣武
The Keio Journal of Medicine 37(1), 1-9, 1988
… This article discusses on some of the newer developments in the study of the physiology and pathophysiology of human phenylalanine metabolism: 1) the phenylalanine hydroxylating system, 2) the early diagnosis of hyperphenylalaninemia syndromes, 3) the molecular basis for phenotypic heterogeneity of phenylketonuria, 4) the prenatal diagnosis of phenylketonuria, and 5) hyperphenylalaninemia caused by defects in tetrahydrobiopterin metabolism. …
NAID 80003775942

高柳正樹
千葉医学雑誌 59(5), 309-317, 1983-10
1977年10月より1981年9月までの4年間の,千葉県下における178,500例の新生児代謝異常マススクリーニングにより得られた120例の精検症例を検討することにより,30例のヒスチジン血症,1例の非典型的高チロジン血症を発見した。この期間中ホモシスチン尿症,フェニールケトン尿症,ガラクトース血症,メープルシロップ尿症は発見できなかった。ヒスチジン血症の発生率は5400人に1例であり,全国平均の …
NAID 110006444701