Differences between acylcarnitine profiles in plasma and bloodspots (Q45715465)

15 December 2017

Differences between acylcarnitine profiles in plasma and bloodspots (English)

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15 December 2017

Monique G M de Sain-van der Velden

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15 December 2017

Eugene F Diekman

2

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15 December 2017

Judith J Jans

3

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15 December 2017

Maria van der Ham

4

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15 December 2017

Berthil H C M T Prinsen

5

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15 December 2017

Gepke Visser

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15 December 2017

Nanda M Verhoeven-Duif

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15 December 2017

13 April 2013

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Molecular Genetics and Metabolism

15 December 2017

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15 December 2017

110

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15 December 2017

116-121

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15 December 2017

1-2

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A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

15 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

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

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1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

7 January 2021

1 reference

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Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

The use of the dried blood spot sample in epidemiological studies

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result

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Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

7 January 2021

1 reference

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A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood

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1 reference

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VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

7 January 2021

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A rapid UPLC-MS/MS method for simultaneous separation of 48 acylcarnitines in dried blood spots and plasma useful as a second-tier test for expanded newborn screening

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1 reference

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Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening

7 January 2021

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The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005

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Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.04.008

10.1016/J.YMGME.2013.04.008

7 January 2021

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DOI

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15 December 2017

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