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

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Language	Label	Description	Also known as
English	Postanalytical tools improve performance of newborn screening by tandem mass spectrometry	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

object named as

Patricia L Hall

1

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object named as

Robert J Currier

4

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author name string

Gregg Marquardt

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

David M S McHugh

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Hao Tang

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Stephanie D Stoway

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Piero Rinaldo

7

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Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

0 references

publication date

29 May 2014

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Europe PubMed Central

PubMed publication ID

3 August 2017

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

3 August 2017

16

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Europe PubMed Central

PubMed publication ID

3 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

889-895

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

describes a project that uses

1 reference

Europe PubMed Central

26 June 2022

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

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inferred from PubMed Central ID database lookup

The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy

1 reference

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Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.

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

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The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

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Isolated remethylation disorders: do our treatments benefit patients?

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Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study

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

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

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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

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

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

1 reference

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Newborn screening: toward a uniform screening panel and system

1 reference

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Enhanced interpretation of newborn screening results without analyte cutoff values.

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

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.62

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.62

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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).

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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

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

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

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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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.62

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.62

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24875301

12 December 2020

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inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24875301

12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24875301

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24875301

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanded newborn screening identifies maternal primary carnitine deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/24875301

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2014.62

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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