WordNet

pursue a positive and satisfying existence; "You must accept yourself and others if you really want to live"
actually being performed at the time of hearing or viewing; "a live television program"; "brought to you live from Lincoln Center"; "live entertainment involves performers actually in the physical presence of a live audience" (同)unrecorded
abounding with life and energy; "the club members are a really live bunch"
charged with an explosive; "live ammunition"; "a live bomb"
exerting force or containing energy; "live coals"; "tossed a live cigarette out the window"; "got a shock from a live wire"; "live ore is unmined ore"; "a live bomb"; "a live ball is one in play"
highly reverberant; "a live concert hall"
in current use or ready for use; "live copy is ready to be set in type or already set but not yet proofread"
lead a certain kind of life; live in a certain style; "we had to live frugally after the war"
not recorded; "the opera was broadcast live"
of current relevance; "a live issue"; "still a live option"
write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
(biology) the taxonomic group whose characteristics are used to define the next higher taxon
a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
all of the tokens of the same symbol; "the word `element contains five different types of character"
printed characters; "small type is hard to read"
identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
the means of connection between things linked in series (同)nexus
a unit of length equal to 1/100 of a chain
an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
(computing) an instruction that connects one part of a program or an element on a list to another program or list
a person who has a special life style; "a high liver"
large and complicated reddish-brown glandular organ located in the upper right portion of the abdominal cavity; secretes bile and functions in metabolism of protein and carbohydrate and fat; synthesizes substances involved in the clotting of the blood; sy
liver of an animal used as meat
someone who lives in a place; "a liver in cities"
the 9th letter of the Roman alphabet (同)i

PrepTutorEJDIC

『生きている』,生命がある / 《副詞[句]を伴って》〈人などが〉『生き続ける』 / 〈物事が〉長く続く,存続する / 《場所を表す副詞[句]を伴って》〈人などが〉『住む』,居住する / 《副詞[句]を伴って》『生活する』,暮らす / 生人を楽しむ,おもしろく桟らす / 《a+形容詞癌lifeを目的語にして》〈…を生活〉‘を'する / 〈思想など〉‘を'実銭する
《名詞の前にのみ用いて》『生きている』 / 『活気のある』 / (問題などが)当面の / 燃えている / (弾丸などが)まだ爆発してない,未発の / まだ動いている(働いている),有効な / 電流が通じている / (放走が)生の,実況の
〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
(鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
たいまつ
(ある態度で)生活する人;居住者
〈C〉『肝臓』 / 〈U〉(食用にする)動物の肝臓,レバー
『私は』私が
iodineの化学記号

UpToDate Contents

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. 遺伝性運動失調の概要 overview of the hereditary ataxias
2. 成人における非アルコール性脂肪性肝疾患（NAFLD）の疫学、臨床的特徴、および診断 epidemiology clinical features and diagnosis of nonalcoholic fatty liver disease in adults
3. 成人における非アルコール性脂肪肝疾患の自然経過およびマネージメント natural history and management of nonalcoholic fatty liver disease in adults
4. 成人における急性肝不全：マネージメントおよび予後 acute liver failure in adults management and prognosis
5. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation

English Journal

Japanese Journal

A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

HIDAKA FUMIO,SAWADA HIROTAKE,MATSUYAMA MISAYO,NUNOI HIROYUKI
Pediatrics international : official journal of the Japan Pediatric Society 47(6), 687-690, 2005-12-01
NAID 10017024711

Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency

Ban Kyoko,Sugiyama Kohachiro,Goto Kenji,Mizutani Fumihiko,Togari Hajime
The Tohoku Journal of Experimental Medicine 200(1), 47-53, 2003
… In boys with low erythrocyte PhK activity (i.e., X-linked liver glycogenosis [XLG] type I), deletion of exon 2 (splice site mutation of 79-1 G>T) or nonsense mutation of Q1169X or R497X was identified. … However, missense mutation of R295C was identified in one boy with normal erythrocyte PhK activity (i.e., XLG type II). …
NAID 130004459252

Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis Type I and II

HENDRICKX J.
Am. J. Hum. Genet. 64, 1541-1549, 1999
NAID 30017636472

★リンクテーブル★

リンク元	「X連鎖肝型糖原病I型」
拡張検索	「liver glycogenosis X-linked type II」
関連記事	「link」「type」「I」「linked」「live」