關於 gaucher disease中文 ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Gaucher Disease - 中文版GeneReviews

GD 1型的特征在于存在骨病（骨质减少，局灶性裂解或硬化病变和骨坏死），肝脾肿大，贫血和血小板减少症，肺病以及原发性中枢神经系统疾病的临床或放射学 ...

#12. Gaucher氏病 - 國家教育研究院雙語詞彙

Gaucher氏病. Gaucher disease. 以Gaucher disease 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, Gaucher disease, Gaucher氏病 ...

#13. A3 脂質儲積 - 社團法人中華民國先天及代謝疾病關懷之友協會

Gaucher's disease. 中文譯名: 高雪氏症. 治療：. 一、骨髓移植. 已有多年成功治療的歷史，此療法的效果良好，可以改善原本已經堆積在細胞中的葡萄糖腦甘 ...

#14. 血液/ 73號新生兒篩檢專用濾紙 - 員林基督教醫院

幫助寶寶早期發現先天性溶小體儲積症代謝異常疾病(包含龐貝氏症(Pompe Disease，POMPE)、法布瑞氏症(Fabry Disease，FABRY)、高雪氏症(Gaucher Disease，GAUCHER)、黏多醣 ...

#15. 戈谢病- 症状与病因- 妙佑医疗国际 - Mayo Clinic

登录患者账户 · 简体中文 ... Hughes D. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. ... Gaucher disease (Type 1).

#16. gaucher disease - 英中– Linguee词典

大量翻译例句关于"gaucher disease" – 英中词典以及8百万条中文译文例句搜索。

#17. Gaucher disease 戈謝病(曾用名“高雪病”)

Gaucher disease 戈謝病(曾用名“高雪病”) ，是什麽意思，英文怎麽說，中文意思，血液病學醫學名詞-詞匯翻譯，美國LetPub 論文編輯.

#18. Gaucher Disease - Pediatrics - MSD Manuals

Treatment of Gaucher Disease · Types I and III: Enzyme replacement with glucocerebrosidase · Sometimes miglustat, eliglustat, splenectomy, or stem cell or bone ...

#19. 血液疾病研究及治療 - 中華民國血液病學會

Taiwan 中文 · 中文 · United States English ... Hema Medical Education Series: Gaucher disease. 110年11月10日(三)19:00:00 ...

#20. gaucher's disease-翻译为中文-例句英语 - Reverso Context

使用Reverso Context: It showed Mr. Janichek is suffering from a genetic disorder called Gaucher's disease.，在英语-中文情境中翻译"gaucher's disease"

#21. Eliglustat Tartrate

中文 商品名：高雪嘉 ... 適應症：高雪氏症第一型(Gaucher's disease type 1)。 適應症介紹：高雪氏症(Gaucher's disease)（詳見附錄A-4）。

#22. Gaucher Disease | Johns Hopkins Medicine

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that ...

#23. Gaucher disease: clinical profile and therapeutic developments

由 TM Cox 著作 · 2010 · 被引用 141 次 — Abstract: Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of lysosomal acid β-glucocerebrosidase; ...

#24. 疾病详情-疾病-人卫临床助手-人民卫生出版社

英文名：Gaucher disease. 中文别名：戈谢病. 英文别名. Gaucher disease. 作者. 隋国良;唐炜立. 概述. 葡萄糖脑苷脂累积病（glucocerebroside storage disease，GSD） ...

#25. Enzyme replacement and substrate reduction therapy for ...

Gaucher disease, a rare disorder, is caused by inherited deficiency of the enzyme glucocerebrosidase. It is unique among the ultra‐orphan ...

#26. 成功大學電子學位論文服務

Gaucher disease. 學科別分類. 中文摘要, 亞胺醣如isofagomine和1-deoxynujirimycin (DNJ)等，是非常具有藥效潛力的分子，例如治療代謝疾病、抑制腫瘤 ...

#27. 高雪氏症Gaucher Disease|疾病症狀與相關新聞

高雪氏症Gaucher Disease|疾病症狀與相關新聞，為一種少見的醣脂類貯積症，是因患者體內葡萄糖腦甘脂酵素(ac...|KingNet國家網路醫藥|Second Opinion.

#28. gaucher disease 中文 - 查查詞典

gaucher disease中文 意思:高雪氏癥…,點擊查查權威綫上辭典詳細解釋gaucher disease的中文翻譯,gaucher disease的發音,三態,音標,用法和造句等。

#29. HASH.GD]txt繁体中文翻译[兰博基尼

[兰博基尼：HASH.GD]txt繁体中文翻译[兰博基尼：HASH.GD]1994英语翻译 · Treatment of Ewing sarcoma · Gaucher disease: Pathogenesis, clinical manifestations, and ...

#30. CCL18 as an alternative marker in Gaucher and Niemann ...

DC 欄位 值 語言 dc.contributor.author Chang K.‑L. en‑US dc.contributor.author Hwu W.‑L. en‑US dc.contributor.author Yeh H.‑Y. en‑US

#31. gaucher disease 中文 - Choideep

gaucher disease 中文. 110/11/10三19:00~ Gaucher disease Contacts 中華民國血液病學會The Hematology Society of Taiwan 地址, 台北市常德街一號台大景福館二樓203D ...

#32. 基因醫學部- 跨院代檢項目

項目 醫令碼 價格 科室 1 000X0109 5,000 細胞遺傳檢驗室 2 000X0203 2,000 親子鑑定檢驗室 3 000X0218 5,000 親子鑑定檢驗室

#33. 高雪氏症 - 中文百科知識

高雪氏病，又稱戈謝病（Gaucher disease）是較常見的溶酶體貯積病，為常染色體隱性遺傳病。該病由於葡萄糖腦苷脂酶基因突變導致機體葡萄糖腦苷脂 ...

#34. Gaucher disease | Newborn Screening - HRSA

Gaucher disease is an inherited (genetic) condition that prevents the body from processing glucocerebroside properly. Gaucher disease is ...

#35. Gaucher Disease: Steven's Story

When Diana Huang learned her nephew, Steven, was sick with Gaucher disease in his native China, she helped him come to The Children's Hospital of ...

#36. Gaucher disease是什么意思，戈谢病翻译 - 生物医药大词典

以下为句子列表：. 英文: Diagnosis of Gaucher disease and Niemann Pick disease by electron microscope. 中文: Gaucher病及Niemann-Pick病的电镜诊断.

#37. gaucher disease 的中文含义 - 独特工具箱

高雪氏病，又称戈谢病（Gaucher disease）是较常见的溶酶体贮积病，为常染色体隐性遗传病。该病由于葡萄糖脑苷脂酶基因突变导致机体葡萄糖脑苷脂 ...

#38. Gaucher Disease - AVROBIO

Gaucher disease is most often caused by a change in a single gene known as GBA. The GBA mutation affects production of an enzyme called glucocerebrosidase ( ...

#39. Long-term safety and effectiveness of velaglucerase alfa in ...

Gaucher disease (GD) is caused by reduced lysosomal enzyme ... Orphanet Journal of Rare Diseases ( IF 4.123 ) Pub Date ... 中文翻译： ...

#40. Caregiver-Proxy EQ-5D Ratings of Children with Gaucher ...

香港中文大學研究人員 ... caregiver-proxy HRQoL on children patients with Gaucher disease, and explore the gender differences in the 5 domains of HRQoL.

#41. Gaucher Disease: 酒石酸非戈司他的临床试验 - ICH GCP

这项研究评估了非格司他酒石酸盐在参与者中的长期安全性和有效性曾经高雪氏病的人，他们参加了之前的酒石酸非戈格他酯的2期研究。。临床试验注册。 ICH GCP。

#42. Gaucher Disease | International Center for Limb Lengthening

Gaucher disease is a rare genetic disorder that has a few different names: glucocerebrosidase deficiency, sphingolipidosis 1 or kerasin lipoidosis. There are ...

#43. Gaucher的中文翻譯和情景例句- 留聲詞典

Objective : To discuss the clinical & haematological characteristics of Gaucher disease ( GD ). 目的: 探討戈謝病( GD ) 的臨床及血液學特點. 回到頂部.

#44. Gaucher's Disease - IMAIOS

Diagnosis was made of Gaucher disease [1,2]. Diverse nuclear medicine procedures have been used to assess Gaucher disease: Tc99-MDP for bone infarcts and Tc99m- ...

#45. Glucocerebrosidase Gene Mutations and Parkinson Disease ...

Type 1 Gaucher disease–the milder type of the disease–occurs in all ethnic groups, but is particularly prevalent among Ashkenazi Jews, with a carrier rate of 1 ...

#46. Gaucher Disease: Diagnosis and Treatment

What are the treatments for Gaucher disease? Enzyme replacement therapy (ERT) helps replace that missing enzyme with an infusion (medication ...

#47. 法布瑞氏症(Fabry disease) - Tiny Notes

(圖片來源：wikimedia) 簡介Fabry disease是第二常見的溶體儲積疾病(僅次於Gaucher disease)，是個X link的性聯遺傳，導致細胞膜glycosphingolipid的 ...

#48. GAUCHER DISEASE 中文是什么意思- 中文翻译

GAUCHER DISEASE ”的语境翻译在英语-中文。以下是许多翻译的例句，其中包含“GAUCHER DISEASE” - 英语-中文翻译和搜索引擎英语翻译。

#49. gaucher disease 高雪氏症戈谢病 - 隨意窩

疾病名稱高雪氏症(Gaucher disease) 檢驗代碼GBA 致病基因GBA基因盛行率 ... 中文名稱, 高雪氏症及尼曼匹克症篩檢(Gaucher Disease and Niemann-Pick Type B), 健保碼 ...

#50. Gaucher's disease - 健康跟著走

gaucher disease中文 - Gaucher'sdiseaseorGaucherdisease(GD) ... Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside ...

#51. Imaging of Gaucher disease - Baishideng Publishing Group

Visceral and bone marrow infiltration respond to enzyme replacement therapy however, the bone marrow response typically takes much longer.

#52. 人血清中幾丁質酶的活性與生化指數病理表現的相關性

摘要幾丁三糖酶活性可能為人類巨噬細胞活化的生化防禦標記(marker)，與各種感染性疾病、發炎反應及免疫反應相關，更顯著增加於人類高雪氏症(Gaucher disease) 患者的 ...

#53. Gaucher disease: achievements and prospects - Ponomarev

Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme – glucocerebrosidase, ...

#54. 基因缺陷與兒童心血管疾病 - 馬偕紀念醫院

Gaucher disease Oxalosis. Nemaline myopathy. Masses of intermediate filaments (desmin) Sarcoplasmic neutral fat. Systemic carnitine deficiency.

#55. Library - International Gaucher Alliance

Type Name Download Video Webinar: Newborn screening Watch IGA materials Best Practice Sharing Download IGA materials IGA's Articles of Association (2020) Download

#56. 高雄榮民總醫院病理檢驗部-檢驗項目查詢

醫令英文名稱 收費碼 檢驗科別 醫令英文名稱. Screening for Pompe disease 收費碼. 25305 檢驗科別. 醫令英文名稱. Serum Cu ; Serum Copper 收費碼. 25221A 檢驗科別. 醫令英文名稱. Serum Osmo ; Serum osmolality 收費碼. 25951G 檢驗科別.

#57. 高雪氏症 - A+醫學百科

Gaucher's disease. 分類系統及外部資源. Acid beta-glucosidase ... eMedicine · ped/837 derm/709 · MeSH · D005776 · GeneReviews, Gaucher Disease ...

#58. Gaucher disease | WorldCat.org

Front cover image for Gaucher disease ... this book outlinines the research on the biochemistry and pathology of lysosomal storage disorders.

#59. 多疾病帶因篩檢

疾病名稱(中文)*. 疾病名稱(英文) ... Gaucher disease. GBA. 體染色體隱 ... 37 隱性多囊性腎疾病-PKHD1型Polycystic kidney disease, PKHD1-related.

#60. 多重解析地址选择页面 - 中文DOI

Title：, Analysis of GBA gene mutation in three families with Gaucher disease. First author：：. Journal：, Journal of Clinical Pediatrics.

#61. ZAVESCA® (miglustat): For the treatment of type 1 Gaucher ...

ZAVESCA is a prescription medicine used alone to treat adults with mild to moderate type 1 Gaucher disease. ZAVESCA is used only in people who cannot be treated ...

#62. Ambroxol for treatment of liver cirrhosis and portal ...

Accepted Date: 2020-11-12; Published Date: 2021-04-20. Abstract. Keywords: Gaucher Disease,; Liver Cirrhosis,; Ambroxol. FullText(HTML). References (7) ...

#63. Gaucher Disease | UCLA Health Library, Los Angeles, CA

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that ...

#64. 阿茲海默症及失智等老年神經退化相關病症有關的47個基因

基因名, 相關疾病, 疾病中文名 ... GBA, Parkinson disease, Gaucher disease, Gaucher disease type II, susceptibility to Lewy body dementia ...

#65. 基因遺傳疾病與免疫系統疾病

染色體結構與數目的異常(Chromosome disorders). •單一基因大突變(Single gene disorder, Mendelian disorder) ... Gaucher氏病(Gaucher disease).

#66. 转化医学核心门户

<P>中文名称： SaposinC缺乏性戈谢病</P><P>英文名称：Gaucher Disease, Atypical, Due To Saposin C Deficiency </P><P>OMIM号： 610539 </P><P>所属系统：内分泌和 ...

#67. 高雪氏症 - 中文百科全書

高雪氏病，又稱戈謝病（Gaucher disease）是較常見的溶酶體貯積病，為常染色體隱性遺傳病。該病由於葡萄糖腦苷脂酶基因突變導致機體葡萄糖腦苷脂 ...

#68. Gaucher's disease definition and meaning - Collins Dictionary

Gaucher's disease definition: a rare inherited disorder of fat metabolism that causes spleen and liver enlargement ,... | Meaning, pronunciation ...

#69. Introduction to 1 Gaucher (1個戈謝) | 學術寫作例句辭典

Enzyme replacement and substrate reduction therapies have significantly improved outcomes in patients with Type 1 Gaucher disease (GD1), ...

#70. Biochemical and molecular characterization of adult patients ...

Gaucher disease is a rare pan-ethnic disorder which occurs due to an ... The population screening for common Gaucher disease mutation (Leu444Pro) was ...

#71. Miglustat & Gaucher's disease - LinkedIn

First described by Dr. Philippe Gaucher in 1882, Gaucher (go-SHAY) disease is a lysosomal storage disorder that is caused by the deficiency ...

#72. 成年人戈谢病伴骨髓戈谢细胞及尼曼匹克细胞样泡沫细胞一例并 ...

A review of Gaucher disease pathophysiology, clinical presentation and treatments[J]. Int J Mol Sci, 2017, 18(2): 441.

#73. Direct and indirect effects of the SARS-CoV-2 pandemic on ...

العربية; 中文 (中国); english; français; Русский; español; português ... Direct and indirect effects of the SARS-CoV-2 pandemic on Gaucher Disease patients ...

#74. 遺傳病之科學基礎及診治

Chromosomal disorders (染色體異常). ▫ Monogenic disorders (單基因遺傳病). ▫ Multifactorial disorders (多種因素 ... Gaucher disease. MECP2. Rett syndrome.

#75. 不同类型戈谢病患儿感染风险差异分析 - 中国循证儿科杂志

Abstract: Background Gaucher Disease (GD) is a rare disease with abnormal immune function, which is often associated with different pathogenic infections.

#76. Type 1 Gaucher disease - Our Medicines | Janssen Australia

The below table provides an overview of all Janssen medicines available in Australia. Please click on the product entry to see a short overview of the ...

#77. 展开 - CNKI学术搜索

Outcome of enzyme replacement therapy in children with Gaucher disease: The ... 中文期刊. 共2条. [1]. 以骨质破坏为主要表现的戈谢病1例报告及文献复习[J].

#78. GARDIAN Registry – Brought to you by the IGA

Welcome to the GARDIAN website, the Gaucher Registry for Development, Innovation & Analysis of Neuronopathic disease. GARDIAN is a global registry and open ...

#79. Gaucher's disease - Causes, Types, Signs ... - Medindia

Gaucher's disease is a rare genetic disorder. It belongs to a group of diseases called glycolipid storage diseases and is due to the lack of an enzyme ...

#80. 戈谢病1例 - 中国当代儿科杂志

戈谢病1例. 王西阁，栾斌，王秀芳. 郑州大学第三附属医院儿内科，河南郑州450052. A case report of Gaucher disease. WANG Xi-Ge, LUAN Bin, WANG Xiu-Fang ...

#81. Gaucher Disease - Epidemiology - Mature Markets - Clarivate

DRG Epidemiology's coverage of Gaucher disease ( GD ) comprises epidemiological estimates of key patient populations in the major mature pharmaceutical ...

#82. Lysosomal Storage Disorder Treatments - Medical ... - Aetna

Gaucher disease, type1. Aetna considers imiglucerase (Cerezyme), taliglucerase alfa (Elelyso), and velaglucerase alfa (VPRIV) medically necessary for treatment ...

#83. Pediatric Rare Diseases--A Collaborative Approach for Drug ...

Pediatric Rare Diseases--A Collaborative Approach for Drug Development Using Gaucher Disease as a Model; Draft Guidance for Industry: Draft ...

#84. 罕見疾病、血友病藥費專款項目之執行報告 - 衛生福利部

中文 翻譯(中文翻譯僅供參考) ... ó 高雪氏症(Gaucher disease)：為葡萄糖腦甘脂酵素無法順利進行新陳代 ... 用於治療法布瑞氏症(Fabrazyme disease)，提供長期酵.

#85. Gaucher disease type 1 - VisualDx

Gaucher disease is a fairly common recessive lysosomal storage disorder in which the lipid glucocerebroside accumulates (primarily in the ...

#86. Immunological Cells and Functions in Gaucher Disease

The macrophage (MΦ) has been the focus of causality, research, and therapy of Gaucher disease, but recent evidence casts doubt its solitary role in the dis.

#87. Borna Disease - 博客來

書名：Borna Disease，語言：英文，ISBN：3540573887，頁數：134，作者：Koprowski, H.，出版日期：1995/06/02，類別：自然科普.

#88. International Gaucher Alliance (@igagaucher) • Instagram ...

The IGA is an international group representing the interests of Gaucher ... Carine Alsokhn talks about the challenges of living with Gaucher disease in two ...

#89. 【Osmosis】Gaucher病Gaucher Disease（中英字幕）-哔哩哔哩

【Osmosis】Gaucher病 Gaucher Disease （中英字幕）. Osmosis 中文. 相关推荐. 评论8. 医学影像学——影像读片. 7.9万 153. 40:51:37. App. 医学影像学——影像读片.

#90. Long-term treatment outcomes in Gaucher disease - Peeref

Long-term treatment outcomes in Gaucher disease ; Joel Charrow C. Ronald Scott ; 关键词. - ; 出版物. AMERICAN JOURNAL OF HEMATOLOGY.

#91. 16 Glucocerebroside 图片、库存照片和矢量图 - Shutterstock

Miglustat Gaucher disease drug molecule. Skeletal formula. Miglustat Gaucher disease drug molecule. Atoms are represented as spheres with conventional color ...

#92. A Study of Early Onset of Either GM1 Gangliosidosis, GM2 ...

A Study of Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidosis, or Gaucher Disease Type 2 in Pediatric Patients.

#93. 新生兒篩檢揪出高雪氏症提早治療大大改善症狀！ - 健康醫療網

蔡輔仁副校長表示，高雪氏症（Gaucher's Disease）是由法國生理學家高雪氏（Philippe Gaucher）發現而以此名命名，屬代謝性疾病其中一種，為一種儲積 ...

#94. 搜尋條件272.7 - 台灣藥物臨床試驗資訊網

試驗申請者/試驗委託單位： {data_factoryname} ; Miglustat治療尼曼匹克症C型病人之臨床效果評估 · 第一型高雪氏症(Type I Gaucher Disease).