Article

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency

2025-04-15

Abstract excerpt

<h4>Background: </h4> Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (< 10 μmol/L) is detected, leading to high false positive referrals. To improve the follow-up protocol for PCD, various acylcarnitines and the summations were comprehensively evaluated in the present study. <h4>Methods:</h4> A retrospective study was performed using samples due to low C0 c...

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Literature Corpus work: b3b76833-86d1-58fd-82fc-181df746f4a7
DOI: 10.20944/preprints202504.1228.v1

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