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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tool...

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tool...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_cristin_nora_10852_85791

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

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Scope and Contents

Contents

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonur...

Alternative Titles

Full title

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

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Primary Identifiers

Record Identifier

TN_cdi_cristin_nora_10852_85791

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_cristin_nora_10852_85791

Other Identifiers

ISSN

2409-515X

E-ISSN

2409-515X

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