Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
Keywords: L-DOPA; 6-Pyruvoyl-tetrahydropterin synthase deficiency; Atypical phenylketonuria; Hyperphenylalaninemia; Tetrahydrobiopterin; l-DOPA; hydroxytryptophan