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Leuzzi, V; Carducci, C A; Carducci, C L; Pozzessere, S; Burlina, A; Cerone, R; Concolino, D; Donati, M A; Fiori, L; Meli, C; Ponzone, A; Porta, F; Strisciuglio, P; Antonozzi, I; Blau, N (2010). Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clinical Genetics, 77(3):249-257.