Different presentations of late-detected phenylketonuria in two brothers with the same R408W/RIIIX genotype in the PAH gene
GIZEWSKA, M, CABALSKA, B, CYRYTOWSKI, L, NOWACKI, P, ZEKANOWSKI, C, WALCZAK, M, JOZWIAK, I, KOZIARSKA, D
Published in Journal of intellectual disability research (01.02.2003)
Published in Journal of intellectual disability research (01.02.2003)
Get full text
Journal Article
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene
Giz·ewska, M., Cabalska, B., Cyrytowski, L., Nowacki, P., Z·ekanowski, C., Walczak, M., Józ´wiak, I., Koziarska, D.
Published in Journal of intellectual disability research (01.02.2003)
Published in Journal of intellectual disability research (01.02.2003)
Get full text
Journal Article
Molecular basis of mild hyperphenylalaninaemia in Poland
Zekanowski, C, Nowacka, M, Cabalska, B, Bal, J
Published in Journal of medical genetics (01.12.1997)
Published in Journal of medical genetics (01.12.1997)
Get full text
Journal Article
Riboflavin status in phenylketonuric patients in the course of dietary treatment
Lipinska, L, Laskowska-Klita, T, Cabalska, B
Published in Journal of inherited metabolic disease (01.03.1994)
Published in Journal of inherited metabolic disease (01.03.1994)
Get more information
Journal Article
Frequencies of the most common mutations responsible for phenylketonuria in Poland
Żekanowski, C., Nowacka, M., Żgulska, M., Horst, J., Cabalska, B., Mazurczak, T.
Published in Molecular and cellular probes (01.08.1994)
Published in Molecular and cellular probes (01.08.1994)
Get full text
Journal Article
Longitudinal study on early diagnosis and treatment of phenylketonuria in Poland
Cabalska, M B, Nowaczewska, I, Sendecka, E, Zorska, K
Published in European journal of pediatrics (01.07.1996)
Published in European journal of pediatrics (01.07.1996)
Get full text
Journal Article
Termination of dietary treatment in phenylketonuria
Cabalska, B, Duczyńska, N, Borzymowska, J, Zorska, K, Koślacz-Folga, A, Bozkowa, K
Published in European journal of pediatrics (01.12.1977)
Published in European journal of pediatrics (01.12.1977)
Get more information
Journal Article
Influence of the phenylketonuric heterozygote on the developing fetus
Cabalska, B, Miesowicz, I, Zorska, K, Nowaczewska, I, Duczynska, N
Published in Journal of inherited metabolic disease (01.09.1982)
Published in Journal of inherited metabolic disease (01.09.1982)
Get more information
Journal Article
Early detection of inborn errors of metabolism in Poland
Bozkowa, K, Cabalska, B, Duczynska, N, Grodzka, Z, Lenartowska, I, Helwich, E
Published in Acta anthropogenetica (1983)
Get more information
Published in Acta anthropogenetica (1983)
Journal Article
Glycogenosis type VI and VIa--biochemical and clinical documentation
Pieniazek, D, Pronicka, E, Cabalska, B, Borowska, B, Miłoszewska, E, Maciejko, D, Kulczycka, H, Prokopowicz, K
Published in Pediatria polska (01.07.1985)
Get more information
Published in Pediatria polska (01.07.1985)
Journal Article