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Biopterin responsive phenylalanine hydroxylase deficiencyMatalon, Reuben; Koch, Richard; Michals-Matalon, Kimberlee; Moseley, Kathryn; Surendran, Sankar; Tyring, Stephen; Erlandsen, Heidi; Gamez, Alejandra; Stevens, Raymond C; Romstad, Anne; Møller, Lisbeth B; Guttler, Flemming · Genetics in Medicine · 2004