亲爱的研友该休息了!由于当前在线用户较少,发布求助请尽量完整地填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!身体可是革命的本钱,早点休息,好梦!

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

半乳糖血症 新生儿筛查 半乳糖 医学 串联质谱法 假阳性悖论 儿科 内科学 内分泌学 生物化学 化学 质谱法 色谱法 计算机科学 机器学习
作者
Suha Daas,Nasser Abu Salah,Yair Anikster,Ortal Barel,Nadirah Damseh,Elena Dumin,Aviva Fattal‐Valevski,Tzipora C. Falik‐Zaccai,Clair Habib,Sagi Josefsberg,Stanley H. Korman,Katya Kneller,Yuval E. Landau,Tally Lerman‐Sagie,Hanna Mandel,Yehoshua Manor,Tameemi Moady Abdalla,Rachel Rock,Nira Rostami,Ann Saada
出处
期刊:Journal of Inherited Metabolic Disease [Wiley]
卷期号:46 (2): 232-242 被引量:2
标识
DOI:10.1002/jimd.12580
摘要

Abstract Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐ 1 ‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it from becoming universal. In order to develop the Israeli newborn screening pilot algorithm for galactosemia, flow injection analysis tandem mass spectrometry measurement of galactose‐1‐phosphate in archived dried blood spots from newborns with classical galactosemia, galactosemia variants, epimerase deficiency, and normal controls, was conducted. Out of 431 330 newborns screened during the pilot study (30 months), two with classical galactosemia and four with epimerase deficiency were identified and confirmed. Five false positives and no false negatives were recorded. Following this pilot study, the Israeli final and routine newborn screening algorithm, as recommended by the Advisory Committee to the National Newborn Screening Program, now consists of galactose‐1‐phosphate measurement integrated into the routine tandem mass spectrometry panel as the first‐tier screening test, and GALT enzyme activity as the second‐tier performed to identify only newborns suspected to be at risk for classical galactosemia. The GALT enzyme activity cut‐off used in the final algorithm was lowered in order to avoid false positives.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
3秒前
太叔十三发布了新的文献求助10
4秒前
金生生完成签到 ,获得积分10
8秒前
hsy发布了新的文献求助10
8秒前
淡淡的无敌完成签到 ,获得积分10
9秒前
充电宝应助Aric采纳,获得10
11秒前
隐形元绿完成签到 ,获得积分10
17秒前
复杂妙海完成签到,获得积分10
19秒前
GTI完成签到,获得积分10
21秒前
南国有佳人完成签到,获得积分10
21秒前
早日毕业脱离苦海完成签到 ,获得积分10
23秒前
eric888完成签到,获得积分0
24秒前
脱壳金蝉发布了新的文献求助10
24秒前
25秒前
25秒前
酷波er应助有魅力白开水采纳,获得10
27秒前
刘骁萱完成签到 ,获得积分10
27秒前
28秒前
寻道图强应助561采纳,获得50
29秒前
田様应助SCI信手拈来采纳,获得10
29秒前
萍水发布了新的文献求助10
29秒前
helinchen完成签到,获得积分10
31秒前
hautzhl发布了新的文献求助10
32秒前
Aric发布了新的文献求助10
32秒前
42秒前
44秒前
45秒前
basaker发布了新的文献求助10
47秒前
游浅葭葭发布了新的文献求助10
49秒前
痞老板死磕蟹黄堡完成签到 ,获得积分10
50秒前
乐乐应助旺仔小馒头采纳,获得10
53秒前
53秒前
Lucas应助萍水采纳,获得10
54秒前
自觉的涵山完成签到 ,获得积分10
55秒前
Jasper应助张同学采纳,获得10
56秒前
游浅葭葭完成签到,获得积分10
56秒前
天天快乐应助大力的图图采纳,获得30
57秒前
风轻云淡发布了新的文献求助10
59秒前
59秒前
科研通AI6.3应助dental采纳,获得10
59秒前
高分求助中
(应助此贴封号)【重要!!请各用户(尤其是新用户)详细阅读】【科研通的精品贴汇总】 10000
Handbook of pharmaceutical excipients, Ninth edition 5000
Aerospace Standards Index - 2026 ASIN2026 3000
Relation between chemical structure and local anesthetic action: tertiary alkylamine derivatives of diphenylhydantoin 1000
Signals, Systems, and Signal Processing 610
Discrete-Time Signals and Systems 610
Principles of town planning : translating concepts to applications 500
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 纳米技术 有机化学 物理 生物化学 化学工程 计算机科学 复合材料 内科学 催化作用 光电子学 物理化学 电极 冶金 遗传学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 6065734
求助须知:如何正确求助?哪些是违规求助? 7898057
关于积分的说明 16322298
捐赠科研通 5208123
什么是DOI,文献DOI怎么找? 2786237
邀请新用户注册赠送积分活动 1768947
关于科研通互助平台的介绍 1647765