Expanded newborn screening: Lessons learned from MCAD deficiency.
作者信息
Dyack Sarah
机构信息
Department of Paediatrics, IWK Health Centre and Dalhousie University, Halifax, Nova Scotia.
出版信息
Paediatr Child Health. 2004 Apr;9(4):241-3. doi: 10.1093/pch/9.4.241.
Abstract
摘要
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本文引用的文献
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N Engl J Med. 2003 Jun 5;348(23):2304-12. doi: 10.1056/NEJMoa025225.
2
Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.串联质谱法新生儿筛查：评估其在威斯康星州新生儿筛查项目中的成本效益。
J Pediatr. 2002 Oct;141(4):524-31. doi: 10.1067/mpd.2002.128116.
3
Cost-benefit analysis of universal tandem mass spectrometry for newborn screening.
Pediatrics. 2002 Oct;110(4):781-6. doi: 10.1542/peds.110.4.781.
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Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.对275000名婴儿进行中链酰基辅酶A脱氢酶缺乏症新生儿筛查的评估。
Arch Dis Child Fetal Neonatal Ed. 2001 Sep;85(2):F105-9. doi: 10.1136/fn.85.2.f105.
6
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.通过基于串联质谱的新生儿前瞻性筛查鉴定出的中链酰基辅酶A脱氢酶（MCAD）突变与临床症状患者中观察到的突变不同：一种导致轻度MCAD缺乏的新的常见突变的鉴定与特征分析。
Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8.
7
The anecdotal history of screening for congenital hypothyroidism.先天性甲状腺功能减退症筛查的轶事性历史。
J Clin Endocrinol Metab. 1999 Dec;84(12):4332-4. doi: 10.1210/jcem.84.12.6221.
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Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.中链酰基辅酶A脱氢酶缺乏症诊断后的结局
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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.英国中链酰基辅酶A脱氢酶缺乏症的前瞻性监测研究。
Arch Dis Child. 1998 Aug;79(2):116-9. doi: 10.1136/adc.79.2.116.
10
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.采用电喷雾电离串联质谱法筛查中链酰基辅酶A脱氢酶缺乏症。
Arch Dis Child. 1998 Aug;79(2):109-15. doi: 10.1136/adc.79.2.109.
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