An audit of newborn screening procedure: Impact on infants presenting clinically before results are available-Reference-Cited by-同舟云学术

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An audit of newborn screening procedure: Impact on infants presenting clinically before results are available

Published:2015-03 Issue:3 Volume:114 Page:403-408
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tal Galit,Pitt James,Morrisy Sally,Tzanakos Nicholas,Boneh Avihu

Funder

Victorian Government's Operational Infrastructure Support Program

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. Screening newborns for inborn errors of metabolism by tandem mass spectrometry;Wilcken;N. Engl. J. Med.,2003

2. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1);Haberle;Mol. Genet. Metab.,2003

3. The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005;Frazier;J. Inherit. Metab. Dis.,2006

4. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry;Dionisi-Vici;J. Inherit. Metab. Dis.,2006

5. Expanded newborn screening: outcome in screened and unscreened patients at age 6years;Wilcken;Pediatrics,2009

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses;International Journal of Neonatal Screening;2020-06-27

2. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China;Clinica Chimica Acta;2019-08

3. Overview of Forensic Toxicology, Yesterday, Today and in the Future;Current Pharmaceutical Design;2018-01-30

4. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency;Genetics in Medicine;2016-12

5. Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States;Molecular Genetics and Metabolism;2015-12

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