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Number of items: 9.

Schwabe, G C; Bächli, H; Boltshauser, E; Kaindl, A M (2014). Entwicklungsstörungen des Nervensystems. In: Hoffmann, G F; Lentze, M J; Spranger, F. Pädiatrie.Grundlagen und Praxis. Heidelberg: Springer Verlag, 1652-1669.

Simaite, D; Kofent, J; Gong, M; Ruschendorf, F; Jia, S; Arn, P; Bentler, K; Ellaway, C; Kuhnen, P; Hoffmann, G F; Blau, N; Spagnoli, F M; Hubner, N; Raile, K (2014). Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes, 63(10):3557-3564.

Jenni, O G; Largo, R H (2014). Wachstum und Entwicklung. In: Hoffmann, G F; et al. Pädiatrie - Grundlagen und Praxis. Heidelberg: Springer, 8-91.

Häberle, J; Shahbeck, N; Ibrahim, K; Hoffmann, G F; Ben-Omran, Ta (2011). Natural course of glutamine synthetase deficiency in a 3 year old patient. Molecular Genetics and Metabolism, 103(1):89-91.

Opladen, T; Abu Seda, B; Rassi, A; Thöny, B; Hoffmann, G F; Blau, N (2011). Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. Journal of Inherited Metabolic Disease, 34(3):819-826.

Opladen, T; Okun, J G; Burgard, P; Blau, N; Hoffmann, G F (2010). Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. Journal of Inherited Metabolic Disease, 33(6):697-703.

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.

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.

This list was generated on Tue Sep 19 19:54:56 2017 CEST.