Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia
2019
Background
This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of diagnosis.
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