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Recommendations for acylcarnitine profile analysis

Authors: Marie, Nowoczyn; Cécile, Acquaviva-Bourdain; Christelle, Corne; Régine, Minet-Quinard; Laetitia, Van Noolen; Roselyne, Garnotel; Anne-Frédérique, Dessein;

Recommendations for acylcarnitine profile analysis

Abstract

Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process for medical biology examinations according to standard NF EN ISO 15189, the group from SFEIM recommends an approach to accredit acylcarnitine profile. Validation parameters and recommendations are discussed in this specific framework.

Keywords

Adult, Male, Blood Specimen Collection, Chromatography, Paper, Diagnostic Tests, Routine, Infant, Newborn, Pre-Analytical Phase, Clinical Laboratory Services, Amniotic Fluid, Accreditation, Neonatal Screening, Pregnancy, Carnitine, Prenatal Diagnosis, Amniocentesis, Humans, Female, Child, Blood Chemical Analysis, Metabolism, Inborn Errors

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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