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Expanded Screening ...
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Sörensen, LeneKarolinska Institutet
(author)
Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.
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Publisher, publication year, extent ...
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2020-05-27
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MDPI AG,2020
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-427131
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-427131URI
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https://doi.org/10.3390/ijns6020042DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:233073033URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.
Subject headings and genre
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Collaborative Laboratory Integrated Reports (CLIR)
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dried blood spots (DBS)
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expanded screening
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newborn screening
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positive predictive value (PPV)
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post-analytical evaluation
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tandem mass spectrometry
Added entries (persons, corporate bodies, meetings, titles ...)
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von Döbeln, UlrikaKarolinska Institutet
(author)
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Åhlman, Henrik
(author)
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Ohlsson, AnnikaUppsala universitet,Centrum för klinisk forskning i Sörmland (CKFD)
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Engvall, MartinKarolinska Institutet
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Naess, Karin
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Backman-Johansson, Carolina
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Nordqvist, Yvonne
(author)
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Wedell, AnnaKarolinska Institutet
(author)
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Zetterström, Rolf HKarolinska Institutet
(author)
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Karolinska InstitutetCentrum för klinisk forskning i Sörmland (CKFD)
(creator_code:org_t)
Related titles
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In:International journal of neonatal screening: MDPI AG6:22409-515X
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