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Updated: Dec 6, 2025

Identifying Amino Acid Overproducers Using Rare-Codon-Rich Markers
Published on: June 24, 2019
[Recommendations for aminoacids chromatography analysis]
Alice Veauville1, Cécile Acquaviva-Bourdain1, Marie Nowoczyn2
1Service de biochimie et biologie moléculaire Grand Est - UM Pathologies métaboliques, érythrocytaires et dépistage périnatal, Centre de biologie Est, Hospices civils de Lyon, Bron, France.
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. Amino acid chromatography allows the identification and quantification of more than forty 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 amino acid chromatography. Validation parameters and recommendations are discussed in this specific framework.
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