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Wali, G M; Thony, B; Blau, N (2010). Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. Movement Disorders, 25(7):954-955.
Kusmierska, K; Jansen, E E W; Jakobs, C; Szymanska, K; Malunowicz, E; Meilei, D; Thony, B; Blau, N; Tryfon, J; Rokicki, D; Pronicka, E; Sykut-Cegielska, J (2009). Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. Journal of Inherited Metabolic Disease, 32(S1):5-10.
Karacic, I; Meili, D; Sarnavka, V; Heintz, C; Thony, B; Petkovic Ramadza, D; Fumic, K; Mardesic, D; Baric, I; Blau, N (2009). Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Molecular Genetics and Metabolism, 97(3):165-171.
Elzaouk, L; Leimbacher, W; Turri, M; Ledermann, B; Burki, K; Blau, N; Thony, B (2003). Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. Journal of Biological Chemistry, 278(30):28303-28311.