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Results: 1-7 |
Results: 7

Authors: Gjetting, T Romstad, A Haavik, J Knappskog, PM Acosta, AX Silva, WA Zago, MA Guldberg, P Guttler, F
Citation: T. Gjetting et al., A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics, MOL GEN MET, 73(3), 2001, pp. 280-284

Authors: Kalkanoglu, HS Romstad, A Coskun, T Guttler, F
Citation: Hs. Kalkanoglu et al., Evaluation of a fetus at risk for dihydropteridine reductase deficiency bydirect mutation analysis using denaturing gradient gel electrophoresis, PRENAT DIAG, 21(10), 2001, pp. 868-870

Authors: Bonafe, L Blau, N Burlina, AP Romstad, A Guttler, F Burlina, AB
Citation: L. Bonafe et al., Treatable neurotransmitter deficiency in mild phenylketonuria, NEUROLOGY, 57(5), 2001, pp. 908-911

Authors: Romstad, A Kalkanoglu, HS Coskun, T Demirkol, M Tokatli, A Dursun, A Baykal, T Ozalp, I Guldberg, P Guttler, F
Citation: A. Romstad et al., Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE), HUM GENET, 107(6), 2000, pp. 546-553

Authors: Koch, R Moseley, K Ning, JP Romstad, A Guldberg, P Guttler, F
Citation: R. Koch et al., Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria, MOL GEN MET, 67(2), 1999, pp. 148-155

Authors: Guttler, F Azen, C Guldberg, P Romstad, A Hanley, WB Levy, HL Matalon, R Rouse, BM Trefz, F de la Cruz, F Koch, R
Citation: F. Guttler et al., Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the Maternal Phenylketonuria Collaborative Study, PEDIATRICS, 104(2), 1999, pp. 258-262

Authors: Romstad, A Guldberg, P Blau, N Guttler, F
Citation: A. Romstad et al., Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia, CLIN CHEM, 45(12), 1999, pp. 2102-2108
Risultati: 1-7 |