糖原病IV型、糖原病4型
WordNet
- 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
- an impairment of health or a condition of abnormal functioning
- (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
- the act of storing something
- the commercial enterprise of storing goods and materials
- the 9th letter of the Roman alphabet (同)i
- caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
PrepTutorEJDIC
- 〈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
- (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
- 女性の話術芸人 =diseur
- (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
- 『私は』私が
- iodineの化学記号
- 病気にかかった / 病的な,不健全な(morbid)
UpToDate Contents
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- 1. グリコーゲン分枝酵素欠損症（糖原病IV型、アンダーセン病） glycogen branching enzyme deficiency glycogen storage disease iv andersen disease
- 2. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
- 3. 先天性代謝異常症：個々の障害の判別 inborn errors of metabolism identifying the specific disorder
- 4. 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
- 5. 先天性代謝異常症：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
English Journal
- Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
- Froese DS1, Michaeli A2, McCorvie TJ1, Krojer T1, Sasi M3, Melaev E3, Goldblum A4, Zatsepin M2, Lossos A3, Álvarez R5, Escribá PV5, Minassian BA6, von Delft F1, Kakhlon O7, Yue WW8.
- Human molecular genetics.Hum Mol Genet.2015 Jul 21. pii: ddv280. [Epub ahead of print]
- Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Mutations in the GBE1 gene lead to the heterogeneous early-onset glycogen storage disorder t
- PMID 26199317
- Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.
- Bendroth-Asmussen L1, Aksglaede L, Gernow AB, Lund AM.
- International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.Int J Gynecol Pathol.2015 Jul 9. [Epub ahead of print]
- A 30-yr-old woman presented with 2 consecutive miscarriages within 7 mo. Histopathologic examination of the placental tissue showed intracytoplasmic inclusion vacuoles with a strong reaction in Periodic acid-Schiff staining and a slightly pallor reaction in alcian blue staining. Additional molecular
- PMID 26166723
- Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
- Boisson B1, Laplantine E2, Dobbs K3, Cobat A4, Tarantino N2, Hazen M3, Lidov HG3, Hopkins G3, Du L3, Belkadi A4, Chrabieh M4, Itan Y1, Picard C5, Fournet JC6, Eibel H7, Tsitsikov E3, Pai SY3, Abel L8, Al-Herz W9, Casanova JL10, Israel A2, Notarangelo LD11.
- The Journal of experimental medicine.J Exp Med.2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25.
- Inherited, complete deficiency of human HOIL-1, a component of the linear ubiquitination chain assembly complex (LUBAC), underlies autoinflammation, infections, and amylopectinosis. We report the clinical description and molecular analysis of a novel inherited disorder of the human LUBAC complex. A
- PMID 26008899
Japanese Journal
- Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV
- 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
- 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
- Japanese circulation journal 65(5), 462-464, 2001-04-20
- NAID 110002567089
Related Links
- Type IV Glycogen Storage Disease. A glycogen storage disease (GSD) is the result of an enzyme defect. ... Frequency International Herling and colleagues studied the incidence and frequency of inherited metabolic ...
- Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the ...
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★リンクテーブル★
| リンク元 | 「糖原病IV型」「glycogen storage disease type IV」 |
| 関連記事 | 「disease」「type」「I」「storage」「IV」 |
「糖原病IV型」
- 英
- type IV glycogen storage disease、glycogen storage disease type IV
- 関
- 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
「glycogen storage disease type IV」
「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.
- 注意
「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
「I」
「storage」
- n.
「IV」
- adj.
- 静脈内の