(Q46290639)

21 December 2017

title

Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests (English)

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21 December 2017

author name string

G la Marca

1

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21 December 2017

S Malvagia

2

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21 December 2017

B Casetta

3

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21 December 2017

E Pasquini

4

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21 December 2017

M A Donati

5

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21 December 2017

E Zammarchi

6

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21 December 2017

publication date

27 October 2008

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21 December 2017

Journal of Inherited Metabolic Disease

published in

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21 December 2017

volume

31 Suppl 2

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21 December 2017

page(s)

S395-404

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21 December 2017

describes a project that uses

liquid chromatography–mass spectrometry

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based on heuristic

inferred from title

liquid chromatography-tandem mass spectrometry

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based on heuristic

inferred from title

cites work

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Population screening in the age of genomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-0965-Z

10.1007/S10545-008-0965-Z

21 January 2018

Identifiers

DOI

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21 December 2017

1 reference

21 December 2017