關於 maple syrup urine 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. 枫糖尿病 - 中文版GeneReviews

枫糖尿病(maple syrup urine disease，MSUD) 分为经典型和轻型。未治疗的经典型MSUD患儿生后12个小时耳垢即出现枫糖样味道。生后12-24小时，血浆中支 ...

#12. 枫糖尿病概述

枫糖尿病(maple syrup urine disease, MSUD，MIM#248600)又称支链酮酸尿症，是一种影响脂肪族或(branched-chain amino acid, BCAA)的疾病。

#13. 認識楓糖尿症 | 健康跟著走

maple syrup urine disease中文 - 楓糖尿症(maplesyrupurinedisease)是常染色體隱性遺傳性病，最先由Menkes等人發現，尿中排出代謝產物具有類似楓糖漿氣味，因...

#14. maple syrup urine disease 中文 - 查查在線詞典

maple syrup urine disease中文 ::槭糖尿病;楓糖漿尿病…，點擊查查權威綫上辭典詳細解釋maple syrup urine disease的中文翻譯，maple syrup urine disease的發音， ...

#15. 楓糖尿症英文 - 三度漢語網

中文詞彙 英文翻譯 出處/學術領域 楓糖尿症 maple syrup urine disease 【醫學名詞‑醫事檢驗名詞】 原發性果糖尿症 essential fructosuria 【醫學名詞‑醫事檢驗名詞】 糖尿症 glycosuria 【食品科技】

#16. Maple Syrup Urine Disease Presenting with Neonatal Status ...

Maple syrup urine disease (MSUD) is a rare inborn error of the branched chain amino acid metabolism, which can be classified as classical, intermediate, ...

#17. Maple syrup urine disease: mechanisms and management

Abstract: Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase ...

#18. 罕病資訊網- 【罕病簡介 】 楓糖尿症 - Facebook

楓糖尿症- Maple syrup urine disease(MSUD) . 【發生率 】 約1/250,000. 【主要成因❓】 楓漿尿症是支鏈胺基酸代謝異常的疾病，屬體染色體隱性 ...

#19. 美国ACCDON公司旗下品牌 - SCI论文修改

推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español ... 中英对照. 枫糖尿症. maple syrup urine disease ...

#20. Maple Syrup Urine Disease - 博客來

Maple Syrup Urine Disease (MSUD), also called branched-chain ketoaciduria, is rare, genetic disorder which is characterized by a deficiency of enzymes ...

#21. Maple syrup urine disease | Newborn Screening

Maple syrup urine disease is an inherited (genetic) condition that prevents the body from processing proteins correctly.

#22. Maple Syrup Urine Disease and Other Disorders of Branched ...

Welcome to this Pearl of Laboratory Medicine on “Maple Syrup Urine Disease and Other Disorders of Branched Chain Amino Acid Catabolism”. Slide 2 ...

#23. Maple Syrup Urine Disease (for Parents) - Kids Health

Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with.

#24. maple syrup urine disease type Ib - Myriad Women's Health

Maple syrup urine disease (MSUD) type Ib, caused by mutations in the BCKDHB gene, is an inherited metabolic disorder named for the characteristic maple ...

#25. Maple Syrup Urine Disease (MSUD) - DynaMed

rare inborn error of amino acid metabolism caused by mutations in the branched-chain ketoacid dehydrogenase (BCKAD) genes, resulting in decreased ...

#26. Illness Plan for Maple Syrup Urine Disease (MSUD)

Maple syrup urine disease (MSUD) is genetic condition in which the body cannot break down certain amino acids in protein.

#27. 7 楓糖漿尿症（maple syrup urine disease）是因幼兒對何..

Bo 國三下(2016/06/29) 楓糖漿尿症(MSUD)，又稱為支鏈酮酸尿症，為體染色體隱性遺傳的支鏈胺基酸代謝異常疾病，支鏈α-酮酸脫氫酶複合物代謝障礙造成支鏈胺基酸的堆積（ ...

#28. maple syrup 中文翻译 - Dmhers

maple syrup 中文 翻译– maple syrup urine disease · 【maple_syrup_urine_diseottom】什么意思_英语maple_syrup_urine_diseottom的翻译_音标_读音_用法_例句_在线翻译…

#29. 楓糖尿症 - 華人百科

楓糖尿症(maple syrup urine disease)是常隱遺傳的代謝病，首先由Menkes等發現，迄今至少報導有10種類型。各類型普遍都存在支鏈胺基酸降解酶的缺乏，並早期出現智慧型 ...

#30. Maple syrup urine disease: domain structure, mutations and ...

Maple syrup urine disease (MSUD) is an autosomal recessive disorder in the oxidative decarboxylation of the branched-chain alpha-keto acids derived from ...

#31. โรคฉี่หอม ชื่อแปลกแต่จริง - Health Me Now

... หรือเด็กทารก ซึ่งมีอาการแปลกมาก และแปลกยิ่งกว่าเมื่อชื่อที่แปลจากภาษาอังกฤษคือ “โรคปัสสาวะน้ำเชื่อมเมเปิ้ล” (Maple Syrup Urine Disease).

#32. Low anion gap: Definition, causes, and symptoms - Medical ...

If a person has a more severe case of kidney disease, ... Add in natural sweeteners, such as honey, maple syrup, or fruit juice.

#33. Maple syrup urine disease - NHS

Maple syrup urine disease (MSUD) is a rare but serious inherited condition. It means the body can't process certain amino acids.

#34. Atlas of Inherited Metabolic Diseases - 第 16 頁 - Google 圖書結果

Treatment outcome of maple syrup urine disease. Acta Paediatr Jpn 1988;30:417. 32. Kleopa KA, Raizen DM, Friedrich CA, et al. Acute axonal neuropathy in ...

#35. Emery and Rimoin’s Principles and Practice of Medical ...

Maple syrup urine disease (Branched-Chain Ketoaciduria). In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, ...

#36. Fetal and Neonatal Brain Injury: Mechanisms, Management and ...

Patients with maple syrup urine disease ( MSUD ) typically present in the first few days to weeks of life , after appearing normal at birth .

#37. Maternal & Child Health Nursing: Care of the Childbearing & ...

By the first or second day of life, the urine of the child develops the characteristic odor of maple syrup; hence the name of the disease.

#38. The Molecular and Genetic Basis of Neurologic and ...

Chuang JL , Fisher CR , Cox RP , Chuang DT : Molecular basis of maple syrup urine disease : Novel mutations at the E1 alpha locus that impair E1 ( alpha 2 ...

#39. Inborn Metabolic Brain Diseases—Advances in Research and ...

maple syrup urine disease. Movement Disorders, 2011;26(7):1324-8). For more information, contact M. Carecchio, Sobell Dept. of Motor Neuroscience and ...

#40. Genetic Disorders and the Fetus: Diagnosis, Prevention, and ...

Others, however, achieved the prenatal diagnosis of maple syrup urine disease (Wendel et al., 1973a; Cox et al., 1978). One attempt to make a prenatal ...

#41. Nutritional and Clinical Management of Chronic Conditions ...

8.7 MAPLE SYRUP URINE DISEASE The decarboxylation of the branched chain amino acids, leucine, isoleucine, and valine, requires a multiunit enzyme system, ...

#42. Cumulated Index Medicus - 第 9 卷 - 第 4151 頁 - Google 圖書結果

Khirurgiia ( Moskva ) 42 : 45-53 , Jun 66 ( Rus ) Maple syrup urine disease . Hatcher GW . [ Manometric control of cystography in the diagnosis Proc Roy Soc ...

#43. pine wilt disease | 科學Online - 國立臺灣大學

松材線蟲─ 松樹的隱形殺手(Invisible killer — The pine wood nematode) 國立臺灣大學昆蟲所博士生曾鈺芳. 起初見到松樹葉片轉黃，還以為只是季節變化，漸漸地，松脂 ...

#44. Maple syrup urine disease - Genetics - MedlinePlus

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.