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    Amino Acid Profiling for the Diagnosis of Inborn Errors of Metabolism

    The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood and urine. For years, the most widespread techn...

    Monique Piraud, Séverine Ruet, Sylvie Boyer, Cécile Acquaviva… in Metabolic Profiling (2011)