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However, we found that both Alanine and Cystine substantially fell outside of healthy reference ranges, with Cystine being dramatically reduced in both affected and unaffected siblings with average plasma concentrations of 3.0 mol/L and 3.3 mol/L respectively, while Alanine was found to be elevated regardless of disease status (U:595.5 mol/L, K:589.0 mol/L)

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