glycogen storage disease type VII

出典: meddic

糖原病VII型7型糖原貯蔵障害

muscle phosphofructokinase deficiencyTarui diseasetype VII glycogen storage disease

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/03/09 14:52:02」(JST)

wiki en

[Wiki en表示]

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.

英文文献

  • Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.
  • Webb BA1, Forouhar F2, Szu FE2, Seetharaman J2, Tong L2, Barber DL1.
  • Nature.Nature.2015 Jul 2;523(7558):111-4. doi: 10.1038/nature14405. Epub 2015 May 18.
  • Phosphofructokinase-1 (PFK1), the 'gatekeeper' of glycolysis, catalyses the committed step of the glycolytic pathway by converting fructose-6-phosphate to fructose-1,6-bisphosphate. Allosteric activation and inhibition of PFK1 by over ten metabolites and in response to hormonal signalling fine-tune
  • PMID 25985179
  • Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
  • Wu PL1, Yang YN1, Tey SL1, Yang CH1, Yang SN1, Lin CS2.
  • Pediatrics international : official journal of the Japan Pediatric Society.Pediatr Int.2015 Jun 25. doi: 10.1111/ped.12616. [Epub ahead of print]
  • Muscle phosphofructokinase (PFK) deficiency is a rare autosomal recessive disease. We report the case of a preterm female infant who was diagnosed with the infantile form of phosphofructokinase deficiency due to a lack of PFK activity in her muscles, manifesting at a corrected age of 1 month as flop
  • PMID 26108272
  • Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
  • Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.
  • The British journal of radiology.Br J Radiol.2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14.
  • Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially deva
  • PMID 24234586

関連リンク

Frequency International Tarui disease is the least common glycogen-storage disease. Tarui disease is considered very rare, with approximately 100 reported cases; however, because symptoms may be quite mild, the ...
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of ...

関連画像

Glycogen storage disease type VII is Glycogen storage diseasesglycogen storage disease type emedicine Hepatic glycogenosisType II (Lysosomal α1->4and α1->6  with glycogen storage disease type Ia


★リンクテーブル★
リンク元垂井病」「7型糖原貯蔵障害」「muscle phosphofructokinase deficiency」「type VII glycogen storage disease
拡張検索glycogen storage disease type VIII
関連記事type」「disease」「storage」「diseased」「glycogen

垂井病」

  [★]

Tarui disease
VII型糖原病, 糖原病VII型, 糖原病7型, 7型糖原貯蔵障害, type VII glycogen storage disease, glycogen storage disease type VII, glycogenosis type VII

筋型ホスホフルクトキナーゼ欠損症 muscle phosphofructokinase deficiencyPFKM欠損症 PFKM deficiency phosphofructokinase, muscle type deficiency

糖原病



7型糖原貯蔵障害」

  [★]

glycogen storage disease type VII
垂井病糖原病VII型筋ホスホフルクトキナーゼ欠損症

muscle phosphofructokinase deficiency」

  [★]

筋ホスホフルクトキナーゼ欠損症

glycogen storage disease type VIITarui disease


type VII glycogen storage disease」

  [★]

糖原病VII型、糖原病7型

glycogen storage disease type VII

glycogen storage disease type VIII」

  [★]

糖原病VIII型8型糖原貯蔵障害

type VIII glycogen storage disease

type」

  [★]

  • n.
(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
formmodepatterntype specimentyped

WordNet   license wordnet

「write by means of a keyboard with types; "type the acceptance letter, please"」
typewrite

WordNet   license wordnet

「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"」

WordNet   license wordnet

「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

WordNet   license wordnet

「identify as belonging to a certain type; "Such people can practically be typed"」
typecast

PrepTutorEJDIC   license prepejdic

「〈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」


disease」

  [★]

  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意
diseaseillnessdisorder


WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」

storage」

  [★]

  • n.
poolpoolingpreservationpreservereservestore

WordNet   license wordnet

「(computer science) the process of storing information in a computer memory or on a magnetic tape or disk」

WordNet   license wordnet

「the act of storing something」

WordNet   license wordnet

「the commercial enterprise of storing goods and materials」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」

diseased」

  [★]

WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」


glycogen」

  [★] グリコーゲン

WordNet   license wordnet

「one form in which body fuel is stored; stored primarily in the liver and broken down into glucose when needed by the body」
animal starch

PrepTutorEJDIC   license prepejdic

「グリコーゲン,糖原」




★コメント★

[メモ入力エリア]
※コメント5000文字まで
ニックネーム:
コメント:




表示
個人用ツール


  meddic.jp

リンク
連絡