Authors: Blau, N Scherer-Oppliger, T Baumer, A Riegel, M Matasovic, A Schinzel, A Jaeken, J Thony, B

Citation: N. Blau et al., Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS, HUM MUTAT, 16(1), 2000, pp. 54-60

Authors: Scherer-Oppliger, T Matasovic, A Laufs, S Levy, HL Quackenbush, EJ Blau, N Thony, B

Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (vol 13, pg 286, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86

Authors: Scherer-Oppliger, T Matasovic, A Laufs, S Levy, HL Quackenbush, EJ Blau, N Thony, B

Citation: T. Scherer-oppliger et al., Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia, HUM MUTAT, 13(4), 1999, pp. 286-289

Authors: Scherer-Oppliger, T Leimbacher, W Blau, N Thony, B

Citation: T. Scherer-oppliger et al., Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II, J BIOL CHEM, 274(44), 1999, pp. 31341-31348