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Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France Figure 1. [Proposed algorithm following newborn screening (NBS) result suggestive of isovaleric acidemia (IVA)]. GeneReviews NCBI Bookshelf Functional genomics of OCTN2 variants informs protein specific variant effect predictor for Carnitine Transporter Deficiency PNAS L Carnitine Disguised Alpha Propionylcarnitine an overview ScienceDirect Topics l Carnitine reduces reactive oxygen species endoplasmic reticulum stress and maintains mitochondrial function during autophagy mediated cell apoptosis in perfluorooctanesulfonate treated renal tubular cells Scientific Reports
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