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Number of items: 8.

Scherer, Tanja; Allegri, Gabriella; Sarkissian, Christineh N; Ying, Ming; Grisch-Chan, Hiu Man; Rassi, Anahita; Winn, Shelley R; Harding, Cary O; Martinez, Aurora; Thöny, Beat (2018). Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. Journal of Inherited Metabolic Disease, 41(4):709-718.

Winn, Shelley R; Scherer, Tanja; Thöny, Beat; Ying, Ming; Martinez, Aurora; Weber, Sydney; Raber, Jacob; Harding, Cary O (2018). Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice. Molecular Genetics and Metabolism, 123(1):6-20.

Blau, Nenad; Martinez, Aurora; Hoffmann, Georg F; Thöny, Beat (2018). DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Molecular Genetics and Metabolism, 123(1):1-5.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Phenylketonuria and BH4 Deficiencies. Edited by: Blau, Nenad; Burlina, Alberto B; Burton, Barbara K; Levy, Harvey L; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; van Spronsen, Francjan J; Thöny, Beat (2016). Bremen: UNI-MED Verlag AG.

Korner, Germaine; Noain, Daniela; Ying, Ming; Hole, Magnus; Flydal, Marte I; Scherer, Tanja; Allegri, Gabriella; Rassi, Anahita; Fingerhut, Ralph; Becu-Villalobos, Damasia; Pillai, Samyuktha; Wueest, Stephan; Konrad, Daniel; Lauber-Biason, Anna; Baumann, Christian R; Bindoff, Laurence A; Martinez, Aurora; Thöny, Beat (2015). Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain, 138(10):2948-2963.

Heintz, Caroline; Troxler, Heinz; Martinez, Aurora; Thöny, Beat; Blau, Nenad (2012). Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Molecular Genetics and Metabolism, 105(4):559-665.

Sarkissian, Christineh N; Ying, Ming; Scherer, Tanja; Thöny, Beat; Martinez, Aurora (2012). The mechanism of BH4-responsive hyperphenylalaninemia—As it occurs in the ENU1/2 genetic mouse model. Human Mutation, 33(10):1464-1473.

This list was generated on Fri May 24 23:29:03 2019 CEST.