Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency?￠????Alternative Approaches

Rodney J. Pollitt

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Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency?￠????Alternative Approaches

机译：中链酰基辅酶A脱氢酶缺乏症的新生儿筛查？替代方法

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The challenges inherent in many newborn screening programmes for medium-chain acyl-CoA dehydrogenase deficiency could be overcome by better use of the available second-line tests. Application of ?￠????next generation?￠???? technologies could minimize many of the problems generated by the current approach to genetic analysis. (Comment on Maier EM. Int. J. Neonatal Screen. 2015, 1 , 79?￠????88)

机译：通过更好地使用可用的二线检测方法，可以克服许多新生儿筛查程序中链酰基辅酶A脱氢酶缺乏症所固有的挑战。￠下一代的应用技术可以最大程度地减少当前遗传分析方法所产生的许多问题。（关于Maier EM.Int.J.新生儿筛查的评论.2015，1，79，88）

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《International Journal of Neonatal Screening》 |2016年第1期|共页
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Rodney J. Pollitt;
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中图分类临床医学;
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medium-chain acyl-CoA dehydrogenasenewborn screeningneonatal screening;

机译：中链酰基辅酶A脱氢酶新生儿筛查新生儿筛查;

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1. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. [J] . Derks TG, Boer TS, van-Assen A, Journal of inherited metabolic disease . 2008,第1期

机译：荷兰新生儿中链酰基辅酶A脱氢酶（MCAD）缺乏症的筛查：酶分析对确定真正MCAD缺乏症的重要性。
2. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency [J] . T. G. J. Derks, T. S. Boer, A. van Assen, Journal of Inherited Metabolic Disease . 2008,第1期

机译：荷兰新生儿中链酰基辅酶A脱氢酶（MCAD）缺乏症的筛查：酶分析对确定真正的MCAD缺乏症的重要性
3. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available [J] . van Rijt Willemijn J., Jager Emmalie A., van Spronsen Francjan J., Genetics in medicine . 2016,第12期

机译：新生儿有中链酰基辅酶A脱氢酶缺乏症的风险：在人群新生儿筛查结果获得之前使用的围产期方案
4. Screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency in two high endemic malaria populations, West Papua province and North Moluccas [C] . Hanna S. I. Kawulur, Hana Krismawati, Clara Imaniar International Conference on Biological Science . 2020

机译：筛选葡萄糖-6-磷酸盐脱氢酶（G6PD）缺乏两种高处理疟疾群体，西巴布亚省和北莫尔卡斯
5. Discussion of the potential benefits, implications and applications of research and data on parental experiences of children identified as a carrier for medium-chain acyl-CoA dehydrogenase deficiency. [D] . Davar, Ushtavaity V. 2005

机译：讨论被确定为中链酰基辅酶A脱氢酶缺乏症携带者的儿童的父母经验的研究和数据的潜在益处，影响和应用。
6. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency [O] . Maria Luz Couce, Paula Sánchez-Pintos, Luisa Diogo, 2013

机译：新生儿中链酰基辅酶A脱氢酶缺乏症的筛查：区域经验和肉碱缺乏症高发
7. Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency—Alternative Approaches [O] . Rodney J. Pollitt 2016

机译：中链酰基辅酶a脱氢酶缺乏替代方法的新生儿筛查

Neonatal Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency?￠????Alternative Approaches

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