(Q53438013)

English

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

scientific article published in March 2011

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scholarly article

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

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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22 January 2020

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Sherry Poh

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Arnold Pollak

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Philip A Poston

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Edward Randell

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Enzo Ranieri

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John E Reddic

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Alicia Roberts

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Hugo Rocha

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Geraldine Roche

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Cheryl Rochman Greenberg

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María Jesús Juan-Fita

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Consuelo Ruiz

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S Lane Rutledge

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Euijung Ryu

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Christine Saban

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Maria Isabel Salazar García-Blanco

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Pedro Santiago-Borrero

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Andrea Schenone

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Barb Schweitzer

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Patricia Scott

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Scott M Shone

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Victor A Skrinska

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Erin T Strovel

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Zoltan Takats

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J Robert Thompson

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Rosario Torres

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Sandor Turi

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Alf G Valiente

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Ulrika von Döbeln

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Sheila Weiss

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Sharon K Williams

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Michael Woontner

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Katherine Wright

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Wendy M Zakowicz

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Bonifacio Dy

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language of work or name

0 references

publication date

1 March 2011

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22 January 2020

number of pages

25

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based on heuristic

inferred from page(s)

Genetics in Medicine

1 reference

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22 January 2020

13

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22 January 2020

3

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22 January 2020

230-254

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22 January 2020

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31820d5e67

0 references

Newborn screening: toward a uniform screening panel and system

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

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/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Improved MS/MS analysis of succinylacetone extracted from dried blood spots when combined with amino acids and acylcarnitine butyl esters.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Newborn screening may fail to identify intermediate forms of maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Acylcarnitine profile analysis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

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).

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

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/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Causes of and diagnostic approach to methylmalonic acidurias.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31820D5E67

21 January 2018

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