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The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

作者信息

la Marca Giancarlo, Malvagia Sabrina, Funghini Silvia, Pasquini Elisabetta, Moneti Gloriano, Guerrini Renzo, Zammarchi Enrico

出版信息

Rapid Commun Mass Spectrom. 2009 Dec;23(23):3891-3. doi: 10.1002/rcm.4289.

DOI:10.1002/rcm.4289
PMID:19902423
Abstract
摘要

相似文献

1
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
Rapid Commun Mass Spectrom. 2009 Dec;23(23):3891-3. doi: 10.1002/rcm.4289.
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The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.在扩大的新生儿筛查项目中纳入琥珀酰丙酮作为I型酪氨酸血症的标志物。
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Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.采用串联质谱法对新生儿进行肝肾功能酪氨酸血症-I 的筛查：新英格兰新生儿筛查计划四年总结。
Clin Biochem. 2013 May;46(7-8):681-4. doi: 10.1016/j.clinbiochem.2013.02.002. Epub 2013 Feb 24.
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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.用于新生儿I型酪氨酸血症筛查的干血斑中琥珀酰丙酮的定量测定。
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Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.通过联合常规新生儿筛查琥珀酰丙酮、酰基肉碱和氨基酸来鉴定一名患有肝肾酪氨酸血症的新生儿。
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[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].[血液和尿液中琥珀酰丙酮水平测定在1型酪氨酸血症诊断中的应用]
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引用本文的文献

1
Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review.黎巴嫩1型遗传性酪氨酸血症的诊断与治疗挑战：一项12年回顾性研究
Front Pediatr. 2021 Aug 6;9:698577. doi: 10.3389/fped.2021.698577. eCollection 2021.
2
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.琥珀酰丙酮的重要性：新生儿筛查正常后出现高胰岛素血症和多器官功能衰竭的I型酪氨酸血症
Int J Neonatal Screen. 2020 Jun;6(2). doi: 10.3390/ijns6020039. Epub 2020 May 16.
3
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.
新生儿I型酪氨酸血症筛查：血斑中琥珀酰丙酮测定至关重要的进一步证据
JIMD Rep. 2011;1:107-9. doi: 10.1007/8904_2011_24. Epub 2011 Jun 22.