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Number of items: 7.

van Wegberg, A M J; MacDonald, A; Ahring, K; Bélanger-Quintana, A; Blau, Nenad; Bosch, A M; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, S C; Kearney, S; Leuzzi, V; Maillot, F; Muntau, A C; van Rijn, M; Trefz, F; Walter, J H; van Spronsen, F J (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases, 12(1):162.

Management of phenylketonuria: current position. Edited by: Blau, N; MacDonald, A; van Spronsen, F J (2011). Amsterdam, The Netherlands: Elsevier.

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.

de Groot, M J; Hoeksma, M; Blau, N; Reijngoud, D J; van Spronsen, F J (2010). Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Molecular Genetics and Metabolism, 99(Sup 1):S86-S89.

Blau, N; van Spronsen, F J; Levy, H L (2010). Phenylketonuria. Lancet, 376(9750):1417-1427.

Phenylketonuria and BH4 deficiencies. Edited by: Blau, N; Burton, B K; Thöny, B; van Spronsen, F J; Waisbren, S (2010). Bremen: UNI-MED Verlag AG.

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.

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