Oerton, J;
Khalid, JM;
Besley, G;
Dalton, RN;
Downing, M;
Green, A;
Henderson, M;
... Dezateux, C; + view all
(2011)
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
J Med Screen
, 18
(4)
173 - 181.
10.1258/jms.2011.011086.
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Abstract
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare, life-threatening condition. Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain.
| Type: | Article |
|---|---|
| Title: | Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies |
| Location: | England |
| Identifier: | PMCID: PMC3243649 |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1258/jms.2011.011086 |
| Publisher version: | http://dx.doi.org/10.1258/jms.2011.011086 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Acyl-CoA Dehydrogenase, Asian Continental Ancestry Group, Decision Trees, England, Ethnic Groups, European Continental Ancestry Group, Female, Genetic Testing, Genetic Variation, Humans, Infant, Newborn, Lipid Metabolism, Inborn Errors, Male, Neonatal Screening, Pilot Projects, Predictive Value of Tests, Prevalence, Prospective Studies, Reproducibility of Results |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1334551 |
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