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Number of items: 6.

Feillet, F; van Spronsen, F J; MacDonald, A; Trefz, F K; Demirkol, M; Giovannini, M; Bélanger-Quintana, A; Blau, N (2010). Challenges and pitfalls in the management of phenylketonuria. Pediatrics, 126(2):333-341.

Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; Macdonald, A; Trefz, F K; van Spronsen, F (2010). Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism, 99(2):109-115.

Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, F K; van Spronsen, F J (2009). Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Molecular Genetics and Metabolism, 96(4):158-163.

Mercher, T; Raffel, G D; Moore, S A; Cornejo, M G; Baudry-Bluteau, D; Cagnard, N; Jesneck, J L; Pikman, Y; Cullen, D; Williams, I R; Akashi, K; Shigematsu, H; Bourquin, J P; Giovannini, M; Vainchenker, W; Levine, R L; Lee, B H; Bernard, O A; Gilliland, D G (2009). The OTT-MAL fusion oncogene activates RBPJ-mediated transcription and induces acute megakaryoblastic leukemia in a knockin mouse model. Journal of Clinical Investigation, 119(4):852-864.

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.

This list was generated on Fri Apr 19 08:54:46 2019 CEST.