Maintenance: From Wednesday, May 30, 2018 6:00 p.m. to Thursday, May 31, 2018 morning, maintenance work on the ZORA servers is scheduled. ZORA will not be available during this period. Thank you for your patience.
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.