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Zurflüh, M R; Zschocke, J; Lindner, M; Feillet, F; Chery, C; Burlina, A; Stevens, R C; Thöny, B; Blau, N (2008). Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Human Mutation, 29(1):167-175.