PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK
A multi-disciplinary medical journal publishing scientific works from theoretical and clinical fields with English summaries as well as works by foreign contributors in English. The chapter "Faculty Life" offers personal messages, reports on the faculty's activities in the past year and presents a complete bibliography of the medical faculty's departments and clinics in the year. The journal has been published since 1956.
Journal homepage
Editorial board
Contact: miluse.volterova@lfp.cuni.cz
Distribution: Ilona.Baxova@lfp.cuni.cz
Journal homepage
Editorial board
Contact: miluse.volterova@lfp.cuni.cz
Distribution: Ilona.Baxova@lfp.cuni.cz
PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK, Vol 2013 No 79 (2014), 63–71
Fenylketonurie
[Phenylketonuria]
P. Sobotka
published online: 20. 04. 2015
abstract
Fenylketonurie Fenylketonurie je nejdůležitější vrozenou poruchou metabolismu aminokyselin. V přehledu je uvedena její historie, genetika, diagnostické metody, klinické příznaky a terapie. Phenylketonuria Phenylketonuria belongs to the most important inborn errors of metabolism of aminoacids. The review deals with its history, genetics, diagnostic methods, clinical symptoms and therapy.
