Beyond citrulline: The diagnostic accuracy of amino acid ratios in neonatal intrahepatic cholestasis caused by citrin deficiency
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder resulting from biallelic pathogenic variants of the SLC25A13 gene. Because NICCD requires immediate and specific dietary management, which differ... ...
