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新生儿筛查：热潮消退之后。

Newborn screening: After the thrill is gone.

作者信息

Vockley Jerry

机构信息

Department of Pediatrics, School of Medicine, University of Pittsburgh, and Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

出版信息

Mol Genet Metab. 2007 Sep-Oct;92(1-2):6-12. doi: 10.1016/j.ymgme.2007.05.012. Epub 2007 Jul 2.

DOI:10.1016/j.ymgme.2007.05.012
PMID:17604202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2768350/
Abstract

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for manyyears and faces new challenges in meeting new needs.

摘要

通过串联质谱法对先天性代谢缺陷进行扩大新生儿筛查，这增加了代谢医学专家的风险。新的疾病以及更广泛的疾病临床谱，要求在处理先天性代谢缺陷方面采用新的模式。遗传性疾病协会多年来一直处于新生儿筛查进展的前沿，在满足新需求方面面临新的挑战。

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Newborn screening: After the thrill is gone.新生儿筛查：热潮消退之后。
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A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.线粒体脂肪酸β氧化中的一种新型遗传疾病：ACAD9缺乏症。
Am J Hum Genet. 2007 Jul;81(1):87-103. doi: 10.1086/519219. Epub 2007 Jun 4.
2
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.通过扩大新生儿筛查发现的苗族婴儿2-甲基丁酰辅酶A脱氢酶缺乏症。
WMJ. 2007 Feb;106(1):12-5.
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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.用于诊断异丁酰辅酶A脱氢酶缺乏症的新生儿筛查随访算法的开发。
Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6.
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Research funding. NIH in the post-doubling era: realities and strategies.研究经费。后翻倍时代的美国国立卫生研究院：现实与策略。
Science. 2006 Nov 17;314(5802):1088-90. doi: 10.1126/science.1136931.
5
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.短链酰基辅酶A脱氢酶缺乏症的临床、生化及基因异质性
JAMA. 2006 Aug 23;296(8):943-52. doi: 10.1001/jama.296.8.943.
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Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.异戊酸血症：遗传和表型异质性的新方面。
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. doi: 10.1002/ajmg.c.30089.
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Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding.
Biochemistry. 2005 Dec 13;44(49):16043-53. doi: 10.1021/bi051048y.
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Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.两种变异型人类短链酰基辅酶A脱氢酶的生化和电化学特性
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Single-gene disorders: what role could moonlighting enzymes play?单基因疾病：兼职酶可能发挥什么作用？
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Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14.