Postanalytical tools improve performance of newborn screening by tandem mass spectrometry (Q34675169)

3 August 2017

title

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry (English)

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3 August 2017

Patricia L Hall

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Robert J Currier

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Gregg Marquardt

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3 August 2017

David M S McHugh

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3 August 2017

Hao Tang

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3 August 2017

Stephanie D Stoway

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3 August 2017

Piero Rinaldo

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3 August 2017

language of work or name

English

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publication date

29 May 2014

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

889-895

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describes a project that uses

3 August 2017

SQL

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26 June 2022

https://europepmc.org/article/PMC/PMC4262759

inferred from PubMed Central ID database lookup

cites work

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7 July 2018

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False-positive newborn screening result and future health care use in a state Medicaid cohort

7 July 2018

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7 July 2018

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Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

7 July 2018

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Improving newborn screening laboratory test ordering and result reporting using health information exchange

7 July 2018

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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

7 July 2018

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Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia

7 July 2018

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

7 July 2018

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Newborn screening: toward a uniform screening panel and system

21 January 2018

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Enhanced interpretation of newborn screening results without analyte cutoff values.

21 January 2018

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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

21 January 2018

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Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

21 January 2018

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Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

21 January 2018

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Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

21 January 2018

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Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency

21 January 2018

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Quantification of malonylcarnitine in dried blood spots by use of MS/MS varies by stable isotope internal standard composition

21 January 2018

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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

21 January 2018

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Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

21 January 2018

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Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

21 January 2018

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State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results

21 January 2018

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12 December 2020

Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its impact on quantitative measurement of amino acids

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12 December 2020

Making the case for objective performance metrics in newborn screening by tandem mass spectrometry

1 reference

12 December 2020

Expanded newborn screening for biochemical disorders: the effect of a false-positive result

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12 December 2020

Expanded newborn screening identifies maternal primary carnitine deficiency

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12 December 2020

Identifiers

DOI

10.1038/GIM.2014.62

1 reference

3 August 2017

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3 August 2017

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