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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.
Meili, D; Kralovicova, J; Zagalak, J; Bonafé, L; Fiori, L; Blau, N; Thöny, B; Vorechovsky, I (2009). Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30(5):823-831.
Jäggi, L; Zurflüh, M R; Schuler, A; Ponzone, A; Porta, F; Fiori, L; Giovannini, M; Santer, R; Hoffmann, G F; Ibel, H; Wendel, U; Ballhausen, D; Baumgartner, M R; Blau, N (2008). Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism, 93(3):295-305.
Zurflüh, M R; Fiori, L; Fiege, B; Ozen, I; Demirkol, M; Gärtner, K H; Thöny, B; Giovannini, M; Blau, N (2006). Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. Journal of Inherited Metabolic Disease, 29(6):725-731.