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#1. Ataxia-Telangiectasia - 臺中 - 台中榮總
共濟失調微血管擴張症候群. Ataxia-Telangiectasia(Louis Bar症候群). 遺傳型式 :體隱性. 變異基因:. 至少有四種ATM(ataxia-telangiectasia mutated ...
#2. 0715 共濟失調微血管擴張症候群Ataxia Telangiectasia 有沒有
此症的發生是由於第11對染色體長臂22.3位置(11q22.3)上的ATM基因(ataxia-telangiectasia mutated gene)發生缺失所導致;ATM基因的蛋白質產物為一種蛋白激酶,功能是當細胞 ...
#3. 共濟失調微血管擴張症候群- 维基百科,自由的百科全书
共濟失調微血管擴張症候群是一種小腦運動失調疾病,常於3-6歲發病,並會有免疫不全、微血管擴張, ... Ataxia Telangiectasia. 症状, thymic hypoplasia [*].
#4. ataxia telangiectasia - 毛細血管擴張性失調 - 國家教育研究院 ...
以ataxia telangiectasia 進行詞彙精確檢索結果. 出處/學術領域, 英文詞彙, 中文詞彙. 學術名詞 醫學名詞, ataxia telangiectasia, 毛細血管擴張性失調. 學術名詞
#5. 運動失調微血管擴張症候群Ataxia telangiectasia - Udn 部落格
運動失調微血管擴張症候群是一種罕見的體染色體隱性遺傳疾病(發病率約四萬分之ㄧ),患者多於幼年發病,是兒童時期最主要的進行性小腦運動失調(cerebellar ...
#6. 毛細血管擴張性運動失調ataxia telangiectasia - KingNet國家網 ...
是一種非性染色體的隱性遺傳性疾病,特徵是眼睛、結膜及臉上皮膚的毛細血管擴張(oculocutaneous telangiectasia)、發生漸進性小腦退化,小腦性運動失調(cerebellar ataxia) ...
#7. atm(共济失调毛细血管扩张突变(基因))_百度百科
atm全称是ataxia telangiectasia-mutated gene,中文名称为共济失调毛细血管扩张突变基因,是与DNA损伤检验有关的一个重要基因。 外文名: atm.
#8. 共济失调毛细血管扩张症 - 中文版GeneReviews
Ataxia -Telangiectasia. 英文原文链接. Richard Gatti, MD and Susan Perlman, MD. Author Information.
#9. ataxia-telangiectasia 中文- 共濟失調毛細血管擴張路 - 綫上翻譯
ataxia -telangiectasia中文:共濟失調毛細血管擴張…,點擊查查權威綫上辭典詳細解釋ataxia-telangiectasia的中文翻譯,ataxia-telangiectasia的發音,音標, ...
#10. ataxia-telangiectasia 中文意思是什麼
ataxia -telangiectasia 解釋. 共濟失調毛細血管擴張. ataxia: n. 1. 混亂,無秩序。2. 【醫學】(肌肉的)運動失調,動作機能不協調。 telangiectasia: n. (pl.
#11. 不典型共济失调毛细血管扩张症一例
共济失调毛细血管扩张症(ataxia telangiectasia,AT),又称为Louis-Bar综合征,是一种罕见的常染色体显性遗传病,与基因突变有关,本病临床表现各异,主要表现为小脑共 ...
#12. ataxia-telangiectasia - 英中– Linguee词典
大量翻译例句关于"ataxia-telangiectasia" – 英中词典以及8百万条中文译文例句搜索。
#13. Ataxia-Telangiectasia - Immune Disorders - MSD Manuals
Ataxia -telangiectasia is a hereditary disorder characterized by incoordination, dilated capillaries, and an immunodeficiency that causes increased ...
#14. N-乙酰-L-亮氨酸治疗共济失调毛细血管扩张症(AT)
Ataxia Telangiectasia · 路易斯巴尔综合征. 介入. 干预类型: 药品. 干预名称: IB1001. 描述: IB1001(N-乙酰基-L-亮氨酸)是一种经修饰的氨基酸酯,口服给药。
#15. Ataxia-Telangiectasia | Children's Hospital of Philadelphia
Ataxia -telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems.
#16. 財團法人彰化基督教醫院- 遺傳諮詢中心醫療資訊網
這一群疾病包括布隆氏症候群(Bloom Syndrome)、范可尼氏貧血(Fanconi Anemia)、協調不能併發血管末端曲張(Ataxia Telangiectasia,簡稱AT)、魏納氏 ...
#17. Chromosomal instability in ataxia telangiectasia - Elsevier
We have examined various aspects of lymphocyte chromosomal instability in three families comprised of five individuals affected with ataxiatelangiectasia ...
#18. Ataxia-Telangiectasia - Myriad Women's Health
Ataxia -telangiectasia (A-T) is an inherited disease characterized by the loss of one's ability to coordinate movement (ataxia), a weakening of the immune ...
#19. ataxia 中文
ataxia中文 ::運動失調;共濟失調;協調不能;協同不能;動作機能不協調;混亂,點擊查查權威綫上辭典詳細解釋ataxia的中文翻譯,ataxia的發音,音標,用法和例句等。
#20. 公告罕見疾病名單暨ICD-9-CM 編碼一覽表
Ataxia telangiectasia. 334.8. 04 亨丁頓氏舞蹈症. Huntington disease(又稱Huntington's chorea). 333.4. 05 瑞特氏症候群. Rett syndrome.
#21. Ataxia Telangiectasia Child Awareness Mama Bear Support ...
Amazon.com: Ataxia Telangiectasia Child Awareness Mama Bear Support Ribb Premium T-Shirt : 服裝,鞋子和珠寶.
#22. Ataxia telangiectasia–like disorder (ATLD) features cerebellar ...
Ataxia telangiectasia is a disorder similar to ATLD and results from inherited mutation in the ATM gene. ... 結果(繁體中文) 1: [復制]. 復制成功!
#23. Ataxia - Symptoms and causes - Mayo Clinic
Friedreich's ataxia. This common hereditary ataxia involves damage to your cerebellum, spinal cord and peripheral nerves. · Ataxia-telangiectasia ...
#24. Association of Tumor Protein p53 and Ataxia-Telangiectasia ...
Key Points español 中文 (chinese) ... Loss of ataxia-telangiectasia mutated (ATM) (OMIM 607585) function is associated with the autosomal ...
#25. Ataxia telangiectasia-mutated gene,ATM是什么意思 - 生物医药 ...
Ataxia telangiectasia -mutated gene,是与DNA损伤检验有关的一个重要基因。最早发现于毛细血管扩张性共济失调症患者,人类中大约有1%的人是ATM缺失的杂合子,表现出对 ...
#26. Ataxia Telangiectasia (A-T) | Johns Hopkins Medicine
Ataxia telangiectasia (A-T) is a rare childhood disease that affects the nervous system and other body systems.The risk for breast cancer may be increased ...
#27. 基因檢驗- 柯滄銘婦產科診所Gene testing Center
微血管擴張性運動失調症(Ataxia telangiectasia). Bartter氏症候群(Bartter syndrome). 狄蘭吉氏症候群(Cornelia de Lange syndrome).
#28. ataxia telangiectasia syndrome"的中文翻译 - 医学词典
与"ataxia telangiectasia syndrome"相近的词条 ... Ataxia of cats virus · ataxia paramyotonia · ataxia telangiec tasia · ataxia telangiec tasia syndrome ...
#29. Ataxia-telangiectasia syndrome - VisualDx
Ataxia -telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by progressive ...
#30. ataxia telangiectasia - Chinese Translation - 吕氏英汉字典
"ataxia telangiectasia" Chinese translation ("ataxia telangiectasia" in Chinese, "ataxia telangiectasia" 中文翻译, "ataxia telangiectasia"发音): ...
#31. ataxia-telangiectasia的中文翻译及用法 - 沪江网校
沪江词库精选ataxia-telangiectasia是什么意思、英语单词推荐、ataxia-telangiectasia的用法、ataxia-telangiectasia的中文翻译及用法、翻译ataxia-telangiectasia是 ...
#32. Multidisciplinary Management of Ataxia Telangiectasia | JMDH
Abstract: Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) ...
#33. 公告罕見疾病名單暨ICD-10-CM編碼一覽表(依疾病分類排序)
Ataxia telangiectasia. G11.3. 04 亨丁頓氏舞蹈症. Huntington disease(又稱. Huntington's chorea). G10. 05 雷特氏症. Rett syndrome. F84.2 ...
#34. Attenuation of ataxia telangiectasia mutated signalling ...
BioTek 引用, 09/22 2020, Attenuation of ataxia telangiectasia mutated signalling mitigates age-associated intervertebral disc degeneration.
#35. Ataxia-Telangiectasia AT Children's Project - 小组 - Facebook
地点 椰子溪 社群组织慈善组织 Ataxia-Telangiectasia A-T Children's Project 小组 · 中文(简体) · English (US) · Español · Français (France) · العربية · Português (Brasil) ...
#36. Effect of Reducing Ataxia-Telangiectasia Mutated (ATM) in ...
The ataxia-telangiectasia mutated (ATM) and AT and Rad3-related (ATR) protein kinases are key proximal transducers of the DDR ... 中文翻译: ...
#37. 意思是“共济失调毛细血管扩张症突变”_英文缩写
英文单词:Ataxia Telangiectasia Mutated; 缩写词中文简要解释:共济失调毛细血管扩张症突变; 中文拼音:gòng jì shī tiáo máo xì xuè guǎn kuò zhāng zhèng tū biàn ...
#38. 瑞柏生物科技股份有限公司
中文 名稱:Guinea pig Ataxia Telangiectasia Mutated (ATM) ELISA Kit. 英文名稱:Guinea pig Ataxia Telangiectasia Mutated (ATM) ELISA Kit. 包裝單位:48/96-well.
#39. Ataxia Telangiectasia: Pathogenesis and Clinical Findings
Ataxia Telangiectasia : Pathogenesis and Clinical Findings. Post Views: 1,887. © 2021 - The Calgary Guide to Understanding Disease.
#40. Ataxia-Telangiectasia - St. Jude Children's Research Hospital
Ataxia -telangiectasia is a rare genetic condition that affects the nervous system, immune system and other body systems. Children with this condition have ...
#41. 第八型脊髓小腦運動失調症:遺傳及啟動子功能性分析
Spinocerebellar ataxia type 8 : genetic and promoter functional studies ... Canudas, A.M., Palla`s, M. Inhibition of ataxia telangiectasia-p53-E2F-1 pathway ...
#42. Goat anti-ATM Antibody, Affinity Purified - Sigma-Aldrich
Goat anti-ATM Antibody, Affinity Purified Powered by Bethyl Laboratories, Inc.; Synonyms: TELO1,TEL1,homolog,ATC,ataxia telangiectasia mutated,telomere ...
#43. 公告罕見疾病名單暨ICD-10-CM編碼一覽表(依疾病分類排序)
號中文病名(僅供參考). 英文病名(縮寫). ICD-10-CM 診斷代碼. A.先天性代謝異常 ... Ataxia telangiectasia. G11.3. 04 亨丁頓氏舞蹈症.
#44. 衛生署公告罕見疾病名單 - 衛生福利部中央健康保險署
疾病名稱, 中文翻譯. (中文翻譯僅供參考). ICD-9-CM. 編碼. 公告日期 ... 16, Ataxia telangiectasia, 共濟失調微血管擴張症候群, 334.8.
#45. 期刊導讀:DNA受損Checkpoint相關蛋白促進癌症生成 - 基因叔叔
... 負責感應;Ataxia telangiectasia- mutated (ATM)、Ataxia telangiectasia and Rad3-related (ATR) 及DNA-PK負責轉換/調節;而ATM、ATR及DNA-PK ...
#46. 同济大学图书馆书目检索系统Online Public Access Catalogue
Ataxia telangiectasia : A cellular and molecular link between cancer, neuropathology, and immune... R592.4/WB851. 馆藏复本:1 可借复本:1 Bridges, B. A., ...
#47. anti-ATM 抗体(C-Term) | ABIN363380 Product No.
ATM 抗体(Ataxia Telangiectasia Mutated) (C-Term) Primary Antibody. ATM 适用: 人, 小鼠 ICC, FACS, IF, IP, IHC, ELISA, WB 宿主: 兔 Polyclonal unconjugated.
#48. ataxia telangiectasia - Translation into Arabic - Reverso Context
Translations in context of "ataxia telangiectasia" in English-Arabic from Reverso Context: Nose bleeds and breathing problems are common symptoms of ataxia ...
#49. 公告罕見疾病名單暨ICD-10-CM 編碼一覽表(依疾病分類排序)
號中文病名(僅供參考). 英文病名(縮寫) ... Ataxia telangiectasia. G11.3. 04 亨丁頓氏舞蹈症 ... Spinocerebellar ataxia. G11.1. 08 結節性硬化症.
#50. 公告罕見疾病名單暨ICD-10-CM 編碼一覽表(依疾病分類排序)
號中文病名(僅供參考). 英文病名(縮寫) ... Ataxia telangiectasia. G11.3. 04 亨丁頓氏舞蹈症 ... Spinocerebellar ataxia. G11.1. 08 結節性硬化症.
#51. Ataxia-Telangiectasia - 费城儿童医院
在眼睛和皮肤的白人的毛刺肺景观(扩张血管); 弱化免疫系统导致频繁感染; 对电离辐射的敏感性; 增加风险,培养白血病(血液形成细胞癌) ...
#52. 公告罕見疾病名單暨ICD-9-CM 編碼一覽表
Ataxia telangiectasia. 共濟失調微血管擴張症候群. 334.8. 17. Cockayne syndrome. Cockayne氏症候群. 759.89. 18. Duchenne muscular dystrophy. 裘馨氏肌肉失養症.
#53. 罕見疾病簡介
序號 序號 ICD‑9‑CM 編碼 01 270.6 01 270.6 02 270.9
#54. 參考區間 - 檢驗項目查詢
中文 名稱, 細胞遺傳學檢查(Chronic Lymphocytic Leukemia), 健保碼, 25007B ... 證據顯示ATM (Ataxia-Telangiectasia Mutated)基因(11q22.3)區域有 ...
#55. 衛生署公告罕見疾病名單
疾病名稱, 中文翻譯 ... 16, Ataxia telangiectasia, 共濟失調微血管擴張症候群, 334.8 ... 33, Spinocerebellar ataxia, 脊髓小腦性共濟失調, 334.3.
#56. 關於原發性免疫缺陷病 - HKU Paed
感染與出血往往為主要死因。典型患者常在10歲內死亡。 伴共濟失調毛細血管擴張的聯合免疫缺陷(Ataxia telangiectasia)。患者2歲 ...
#57. 衛生署公告之罕見疾病名單(98.07.14更新)
疾病名稱, 中文翻譯. (中文翻譯僅供參考). ICD-9-CM. 編碼. 公告日期 ... 16, Ataxia telangiectasia, 共濟失調微血管擴張症候群, 334.8.
#58. Multidisciplinary Management of Ataxia Telangiectasia - Gale
Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene.
#59. ataxia 中文ataxia是什么意思? - KQTDZ
... 有聲雙語美文, 共濟失調毛細血管擴張癥-Ataxia-Telangiectasia. AT的其他含義除了共濟失調毛細血管擴張癥,moral ataxia的中文意思,其發病年齡和病徵也不盡相…
#60. Hightlight - IBMS, Sinica - 中央研究院
Ataxia Telangiectasia Mutated and Checkpoint Kinase 2 Regulate BRCA1 to Promote the Fidelity of DNA End-Joining. Cancer Research., Feb 01, 2006.
#61. telangiectasia翻譯及用法- 英漢詞典 - 漢語網
英漢詞典提供【telangiectasia】的詳盡中文翻譯、用法、例句等. ... on the face) — see ataxia-telangiectasia, hereditary hemorrhagic telangiectasia, spider vein ...
#62. Ataxia Telangiectasia (AT) - Los Angeles - UCLA Health Library
Ataxia -telangiectasia is a rare childhood disease that affects the nervous system and other body systems. It is an inherited disease.
#63. 公告罕見疾病名單暨ICD-9-CM編碼一覽表(至98.7.3止)
疾病名稱, 中文翻譯. (中文翻譯僅供參考). ICD-9-CM編碼 ... Ataxia telangiectasia, 共濟失調微血管擴張症候群, 334.8.
#64. Ataxia telangiectasia like disorder - Orphanet
Ataxia -telangiectasia-like disorder. Disease definition. A rare genetic disease characterized by slowly progressive cerebellar degeneration resulting in ...
#65. 王惠君
正體中文 | 简体中文 | 全文筆數/總筆數: 17488/30367 ... 2006, Ataxia telangiectasia mutated and checkpoint kinase 2 regulate BRCA1 to promote the fidelity of ...
#66. 新增罕見疾病名單
分類序號, 中文病名(僅供參考), 英文病名(縮寫), ICD-9-CM編碼. A.先天性代謝異常 ... 03, 共濟失調微血管擴張症候群, Ataxia telangiectasia, 334.8.
#67. אטקסיה טלאנגיקטזיה (Ataxia-telangiectasia) - אינפומד
אטקסיה טלאנגיקטזיה היא מחלה העוברת בתורשה אוטוזומית רצסיבית, ומתבטאת בהפרעה בשיווי משקל (אטקסיה) עקב ניוון תאים במוחון, בהרחבה של נימי דם בלחמית ובעור ...
#68. A-T Society | LinkedIn
Ataxia -Telangiectasia (A-T) is a progressive genetic condition which causes severe disability and shortens lives. The A-T Society exists to ensure that ...
#69. Ataxia Unit at Massachusetts General Hospital
The Massachusetts General Hospital Ataxia Unit provides expert diagnosis, treatment and education for patients with ataxia and other cerebellar disorders.
#70. 12007C0P | 檢驗項目查詢| 為民服務
醫令中文名稱. Alpha胎兒蛋白. 檢體種類. 血液(Blood). 容器名稱 ... 懷孕、毛細血管擴張性運動失調(ataxia telangiectasia)、遺. 組別. 生化免疫檢驗組. 連絡電話.
#71. telangiectasia是什么意思 - 英文在线翻译
telangiectasia 的中文意思:毛细管扩张,点击查看详细解释:telangiectasia的中文 ... Human ataxia telangiectasia mutated , atm elisa kit 96t48t .
#72. TW PID Guide_CSL_A5_book_0828_Final.pdf - 台灣兒童過敏 ...
Ataxia telangiectasia 毛細血管擴張共濟失調. 形成機制. ATM 基因突變引起的疾病,此基因和DNA 修復有關。遺傳方式. 為染色體隱性遺傳。 臨床表現.
#73. Ataxia-telangiectasia - Tiny Notes
簡介Ataxia-telangiectasia是一種體染色體隱性的疾病,以漸進性的小腦性共濟失調(ataxia)、異常的眼球移動、皮膚眼球的微血管擴張、以及免疫缺乏來表現。
#74. 基因分子診斷實驗室- 家族性乳癌
簡述其整個修復機轉,當細胞內雙股DNA損壞時,受損反應激酶(damage-response kinase) ATM (ataxia–telangiectasia mutated) 與ATR ...
#75. Ataxia-telangiectasia mutated kinase (ATM) as a central ...
Ataxia -telangiectasia mutated kinase (ATM) is a DNA damage-inducible protein kinase, which phosphorylates plethora of substrates participating in DNA damage ...
#76. Ataxia-Telangiectasia Syndrome - Usmle case based discussion
#77. ataxia telangiectasia - Yahoo奇摩字典搜尋結果
ataxia telangiectasia. 美式. ph. 毛細血管擴張性運動失調;共濟失調微血管擴張症候群(是一種非性染色體的隱性遺傳性疾病,特徵是眼睛、結膜及臉上皮膚的毛細血管 ...
#78. 疾病介紹- 學術專區 - 台灣動作障礙學會
基因的檢查有助於區分良性遺傳性舞蹈症與杭丁頓氏病,ataxia telangiectasia及良性本態性肌躍症(benign essential myoclonus)。
#79. Ataxia-Telangiectasia:概述 - AT Society
Ataxia -Telangiectasia (“A-T”) 是一种很少见的家族性神经退行性疾病。 其他病征包括:. * 经常感染. * 体格消瘦. * 患癌症的风险升高. 最重大的实验室研究发现是对大 ...
ataxia telangiectasia中文 在 Ataxia-Telangiectasia AT Children's Project - 小组 - Facebook 的推薦與評價
地点 椰子溪 社群组织慈善组织 Ataxia-Telangiectasia A-T Children's Project 小组 · 中文(简体) · English (US) · Español · Français (France) · العربية · Português (Brasil) ... ... <看更多>