Authors:
Zekanowski, C
Nowacka, M
Radomyska, B
Cabalska, B
Citation: C. Zekanowski et al., Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience, J MED SCREE, 8(3), 2001, pp. 132-136
Citation: C. Zekanowski et al., Association between minihaplotypes and mutations at the PAH locus in polish hyperphenylalaninemic patients, HUMAN HERED, 51(1-2), 2000, pp. 117-120
Authors:
Zekanowski, C
Perez, B
Desviat, LR
Wiszniewski, W
Ugarte, M
Citation: C. Zekanowski et al., In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene, ACT BIOCH P, 47(2), 2000, pp. 365-369
Authors:
Tyfield, L
Reichardt, J
Fridovich-Keil, J
Croke, DT
Elsas, LJ
Strobl, W
Kozak, L
Coskun, T
Novelli, G
Okano, Y
Zekanowski, C
Shin, Y
Boleda, MD
Citation: L. Tyfield et al., Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene, HUM MUTAT, 13(6), 1999, pp. 417-430
Authors:
Zekanowski, C
Nowacka, M
Sendecka, E
Slowik, M
Cabalska, B
Bal, J
Citation: C. Zekanowski et al., Identification of mutations causing 6-pyruvoyl-tetrahydrobiopterin synthase deficiency in Polish patients with variant hyperphenylalaninemia, MOL DIAGN, 3(4), 1998, pp. 237-239