IX型糖原病
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)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/01 17:57:28」(JST)
[Wiki en表示]
Glycogen Storage Disease Type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver (IXA and IXB) and muscle (IXB). It is inherited in an X-linked fashion.
UpToDate Contents
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English Journal
- Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
- Albash B1, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.
- European journal of pediatrics.Eur J Pediatr.2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11.
- Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of c
- PMID 24326380
- Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
- Bali DS1, Goldstein JL2, Fredrickson K3, Rehder C4, Boney A5, Austin S6, Weinstein DA7, Lutz R8, Boneh A9, Kishnani PS10.
- Molecular genetics and metabolism.Mol Genet Metab.2014 Mar;111(3):309-13. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.
- Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes. Presenting symptoms include hepatomegaly, ketotic hypoglycemia, and growth delay. Clinical severity
- PMID 24389071
- Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
- Tsilianidis LA1, Fiske LM, Siegel S, Lumpkin C, Hoyt K, Wasserstein M, Weinstein DA.
- Molecular genetics and metabolism.Mol Genet Metab.2013 Jun;109(2):179-82. doi: 10.1016/j.ymgme.2013.03.009. Epub 2013 Mar 21.
- Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complic
- PMID 23578772
Japanese Journal
- 糖原病IX_a型の3例 : PHKA2遺伝子変異の同定と臨床像の検討
Related Links
- Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver ...
- Glycogen storage disease type IX is caused by mutations in the PHKA1, the PHKA2, the PHKB, or the PHKG2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a ...
★リンクテーブル★
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- 英
- glycogen storage disease type IX, GSD IX
- 関
- ホスホリラーゼキナーゼ、糖原病
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- 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.
- 関
- ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness
- disease ≠ illness ≠ disorder
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- (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
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- 関
- pool、pooling、preservation、preserve、reserve、store
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- 関
- form、mode、pattern、type