查詢結果分析
相關文獻
- Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
- 臺灣地區先天性甲狀腺低能症新生兒篩檢--臺大醫院篩檢中心之經驗
- Evaluating the Effectiveness of the Coal Ash Artificial Reefs at Wan-Li, Northern Taiwan
- 記臺灣蘭科植物相新記錄種--緣毛松蘭
- 臺灣的氣候變化--氣溫和降水
- Change and Stability in the Dietary System of A Prehistoric: Coastal Population in Southern Taiwan: A Research Design
- Diurnal Vertical Distribution of Ichthyoplankton in I-Lan Bay, NE Taiwan
- 臺灣白鼻心之現況調查
- 《詩經.國風》與《臺灣國風》所隱現之情感教育
- 罕見疾病(先天代謝疾病)新生兒篩檢政策之探討--篩檢原則與父母醫療決定權之衡平
頁籤選單縮合
題名 | Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan=以串聯質譜儀篩檢新生兒甲基丙二酸血症之七年臺灣經驗 |
---|---|
作者 | 鄭康祥; 劉美英; 高銓宏; 陳燕彰; 蕭廣仁; 劉孜孜; 林翔宇; 黃正宏; 江傳箕; 何慧珍; 林炫沛; 李妮鐘; 胡務亮; 林如立; 洪蘋瑤; 牛道明; Cheng, Kang-hsiang; Liu, Mei-ying; Kao, Chuan-hong; Chen, Yann-jang; Hsiao, Kwang-jen; Liu, Tze-tze; Lin, Hsiang-yu; Huang, Cheng-hung; Chiang, Chuan-chi; Ho, Huey-jane; Lin, Shuan-pei; Lee, Ni-chung; Hwu, Wuh-liang; Lin, Ju-li; Hung, Ping-yao; Niu, Dau-ming; |
期刊 | Journal of the Chinese Medical Association |
出版日期 | 20100600 |
卷期 | 73:6 2010.06[民99.06] |
頁次 | 頁314-318+CA55 |
語文 | eng |
關鍵詞 | 甲基丙二酸血症; 新生兒篩檢; 臺灣; 串聯質譜儀; Methylmalonic aciduria; Newborn screening; Taiwan; Tandem mass spectrometry; |
英文摘要 | Background: The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening. Methods: Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology. A total of 22 newborns were referred to confirmatory medical centers, and 7 were confirmed as having MMA. The initial propionylcarnitine (C3) level, C3/acetylcarnitine (C2) ratio, plasma ammonia, liver function tests, blood pH and bicarbonate were compared between the true-positive and false-positive groups. Results: The C3/C2 ratio and plasma ammonia were markedly higher in the true-positive MMA group (p < 0.0001). Blood gas pH (p = 0.029), bicarbonate (p = 0.019), and aspartate aminotransferase (p = 0.005) also significantly differed between these 2 groups. Conclusion: Referred newborns with elevated plasma C3/C2 ratios > 0.4 or ammonia levels > 200 μg/dL should be highly suspected of having MMA. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。