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Koht, J; Rengmark, A; Opladen, T; Bjørnarå, K A; Selberg, T; Tallaksen, C M E; Blau, N; Toft, M (2014). Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica. Supplementum, 129(s198):7-12.

Blau, N; Opladen, T (2013). Tetrahydrobiopterin deficiencies and epilepsy. In: Pearl, P L. Inherited Metabolic Epilepsies. New York: Demos Medical Publishing, 159-166.

Mangold, S; Blau, N; Opladen, T; Steinfeld, R; Weßling, B; Zerres, K; Häusler, Martin (2011). Cerebral folate deficiency: A neurometabolic syndrome? Molecular Genetics and Metabolism, 104(3):369-372.

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.

Opladen, T; Blau, N; Ramaekers, V T (2010). Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport. Molecular Genetics and Metabolism, 101(1):48-54.

Blau, N; Opladen, T (2008). Folates. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 717-724.

This list was generated on Thu Jun 27 05:17:44 2019 CEST.