glycogen storage disease type IV

出典: meddic

糖原病IV型4型糖原貯蔵障害

amylopectinosisAndersen diseasetype IV glycogen storage disease

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/07 02:44:11」(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

  • HOIL and water: the two faces of HOIL-1 deficiency.
  • Ombrello MJ, Kastner DL, Milner JD.
  • Nature immunology.Nat Immunol.2012 Dec;13(12):1133-5. doi: 10.1038/ni.2471.
  • PMID 23160206
  • Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
  • Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C.SourceSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York, USA.
  • Nature immunology.Nat Immunol.2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28.
  • We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in
  • PMID 23104095
  • Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.
  • Escobar LF, Wagner S, Tucker M, Wareham J.SourceMedical Genetics and Neurodevelopmental Pediatric Center-Peyton Manning Children Hospital, Indianapolis, IN 46260, USA. lfescoba@stvincent.org
  • Journal of perinatology : official journal of the California Perinatal Association.J Perinatol.2012 Oct;32(10):810-3. doi: 10.1038/jp.2011.178.
  • A total of 11 types of glycogen storage disorders have been recognized with variable clinical presentations. Type IV, also known as Andersen disease, represents a rare subtype that can induce severe clinical findings early in life. We report on a patient with early fetal onset of symptoms with sever
  • PMID 23014386

和文文献

  • Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV
  • MIZUOCHI Tatsuki,KIMURA Akihiko,NISHIURA Hiroshi,INOMATA Yukihiro,OKAJIMA Hideaki,SUGIE Hideo,MITSUBUCHI Hiroshi,YAGI Minoru,KAGE Masayoshi
  • Pediatrics international : official journal of the Japan Pediatric Society 53(1), 129-130, 2011-02-01
  • NAID 10029557461
  • Congenital form of glycogen storage disease type IV : A case report and a review of the literature
  • MARUYAMA KEINCHI,SUZUKI TOMOKO,KOIZUMI TAKENOBU,SUGIE HIDEO,FUKUDA TOKIKO,ITO MASATAKA,HIRATO JUNKO
  • Pediatrics international : official journal of the Japan Pediatric Society 46(4), 474-477, 2004-08-01
  • NAID 10018369311
  • Glycogen Storage Disease Associated With Left Ventricular Aneurysm in an Elderly Patient
  • Toda Genji,Yoshimuta Tsuyoshi,Kawano Hiroaki,Yano Katsusuke
  • Japanese circulation journal 65(5), 462-464, 2001-04-20
  • Glycogen storage disease (GSD) types II, III, IV, and V may be associated with cardiomyopathy, but, with the exception of type III GSD, adult cases are extremely rare. … The damage caused by glycogen deposition was strictly confined to the myocardium. … However, a left ventricular endomyocardial biopsy specimen revealed central vacuolar degeneration of myocytes with depositions of glycogen. …
  • NAID 110002567089

関連画像


押しても画像が表示されない場合はサーバが混雑しています。2週間ほどあけて、再度押下してください。


★リンクテーブル★
リンク元糖原病IV型」「amylopectinosis」「type IV glycogen storage disease」「4型糖原貯蔵障害
関連記事type」「disease」「storage」「I」「diseased

糖原病IV型」

  [★]

type IV glycogen storage diseaseglycogen storage disease type IV
4型糖原貯蔵障害アミロペクチン症アンダースン病、糖原病4型


amylopectinosis」

  [★] アミロペクチン症

Andersen diseaseglycogen storage disease type IV

type IV glycogen storage disease」

  [★]

糖原病IV型、糖原病4型

glycogen storage disease type IV


4型糖原貯蔵障害」

  [★]

glycogen storage disease type IV
糖原病IV型


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

「(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"」

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」

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

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


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」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」

WordNet   license wordnet

「the act of storing something」

WordNet   license wordnet

「the commercial enterprise of storing goods and materials」


I」

  [★]

WordNet   license wordnet

「the 9th letter of the Roman alphabet」
i

PrepTutorEJDIC   license prepejdic

「『私は』私が」

PrepTutorEJDIC   license prepejdic

「iodineの化学記号」


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)」




★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