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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.

Burlina, A; Blau, Nenad (2014). Tetrahydrobiopterin disorders presenting with hyperphenylalaninemia. In: Hoffmann, F G; Blau, Nenad. Congenital Neurotransmitter Disorders: A Clinical Approach. s.n.: Nova Science Pub Inc, n/a.

Brun, L; Ngu, L H; Keng, W T; Ch'ng, G S; Choy, Y S; Hwu, W L; Lee, W T; Willemsen, M A A P; Verbeek, M M; Wassenberg, T; Régal, L; Orcesi, S; Tonduti, D; Accorsi, P; Testard, H; Abdenur, J E; Tay, S; Allen, G F; Heales, S; Kern, I; Kato, M; Burlina, A; Manegold, C; Hoffmann, G F; Blau, N (2010). Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology, 75(1):64-71.

Willemsen, M A; Verbeek, M M; Kamsteeg, E J; de Rijk-van Andel, J F; Aeby, A; Blau, N; Burlina, A; Donati, M A; Geurtz, B; Grattan-Smith, P J; Haeussler, M; Hoffmann, G F; Jung, H; de Klerk, J B; van der Knaap, M S; Kok, F; Leuzzi, V; de Lonlay, P; Megarbane, A; Monaghan, H; Renier, W O; Rondot, P; Ryan, M M; Seeger, J; Smeitink, J A; Steenbergen-Spanjers, G C; Wassmer, E; Weschke, B; Wijburg, F A; Wilcken, B; Zafeiriou, D I; Wevers, R A (2010). Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain: A Journal of Neurology, 133(6):1810-1822.

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.

Burlina, A; Blau, N (2009). Effect of BH(4) supplementation on phenylalanine tolerance. Journal of Inherited Metabolic Disease, 32(1):40-45.

Zurflüh, M R; Zschocke, J; Lindner, M; Feillet, F; Chery, C; Burlina, A; Stevens, R C; Thöny, B; Blau, N (2008). Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Human Mutation, 29(1):167-175.

This list was generated on Tue Sep 25 04:55:43 2018 CEST.