X連鎖肝型糖原病II型
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. リソソーム酸α-グルコシダーゼ欠損症(ポンペ病、糖原病II型、酸マルターゼ欠損症)lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency [show details]
… The effect of the enzyme deficiency may extend to vesicle systems that are linked to lysosomes and may also affect receptors,… also called acid maltase) deficiency (Pompe disease, formerly classified as glycogen storage disease type II [GSD II]) is an autosomal-recessive…
- 2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要overview of inherited disorders of glucose and glycogen metabolism [show details]
… GSD IX (formerly VIII; all of which involve the liver), and GSD II,… It is composed of long polymers of a 1-4 linked glucose, interrupted by a 1-6 linked branch point every 4 to 10 residues.…
- 3. 脊髄性筋萎縮症spinal muscular atrophy [show details]
…serious liver injury. Transient decreases in platelet counts and increased serum troponin have also been observed. Administration – Before starting treatment, clinicians should evaluate liver function… A large number of neuromuscular conditions can present in newborns X-linked infantile spinal muscular atrophy (XL-SMA or SMAX2)… Glycogen storage disease II — The classic infantile form of glycogen storage disease II (Pompe disease) is characterized by hypertrophic cardiomyopathy…
- 4. 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 [show details]
… Hepatomegaly with liver failure suggests hereditary fructose intolerance,… peroxisomal disorders; Links to society and government-sponsored guidelines from… Hypertrophic cardiomyopathy occurs in lysosomal acid maltase deficiency (glycogen storage disease type II, Pompe disease) and in the mucopolysaccharidoses.…
- 5. 先天性代謝異常:個々の障害の発見inborn errors of metabolism identifying the specific disorder [show details]
… elevated liver enzymes, and low platelet count), acute fatty liver of pregnancy (AFLP),… X-linked adrenoleukodystrophy, and creatine transporter deficiency, are X linked and some,… Hypertrophic cardiomyopathy may occur in lysosomal acid maltase deficiency (GSD type II, Pompe disease),…
English Journal
Japanese Journal
- Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency
- Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis Type I and II
Related Links
- 1. Hum Mol Genet. 1996 May;5(5):649-52. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hendrickx J, Dams E, Coucke P ...
- ... GLYCOGEN STORAGE DISEASE IXa2, INCLUDED; GSD9A2, INCLUDED;; GSD IXa2, INCLUDED;; LIVER GLYCOGENOSIS, X-LINKED, TYPE II, INCLUDED; XLG2, INCLUDED Home About Statistics Downloads ...
★リンクテーブル★
[★]
- 英
- liver glycogenosis X-linked type II
- 関
- 糖原病VIII型
[★]
- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
[★]
- (windows)ファイル内容表示(linux -> cat])
- ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html
- 関
- form、mode、pattern、type specimen、typed
[★]
[★]
[★]
- 関
- catenation、link、linkage