Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Slávka Pouchlá"'
Autor:
Pavlína Dahofer, Slávka Pouchlá, Katarína Česká, Hana Ošlejšková, Lenka Fajkusová, Ondřej Horák, Štefánia Aulická
Publikováno v:
Česká a slovenská neurologie a neurochirurgie. :55-59
Autor:
Kamila, Réblová, Zuzana, Hrubá, Dagmar, Procházková, Renata, Pazdírková, Slávka, Pouchlá, Jiří, Zeman, Lenka, Fajkusová
Publikováno v:
Clinica Chimica Acta
ICT FP7 Publications Database
OpenAIRE
ICT FP7 Publications Database
OpenAIRE
Background Hyperphenylalaninemia (HPA) is one of the most common inherited metabolic disorders caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). HPA is associated with mutations in the PAH gene, which leads to reduced protein stabil
Autor:
Dagmar Procházková, Vladimír Mejzlík, Jaroslav Michálek, Drahomíra Bartošová, Petra Konečná, Hana Hrstková, Slávka Pouchlá
Publikováno v:
Klinische Pädiatrie. 221:419-424
The objectice of this study is to present diagnostic pitfalls a nd long time follow-up data in WD
Publikováno v:
Clinical Genetics. 73:441-452
Wilson disease (WD) is an autosomal recessive inherited disorder of copper metabolism that is caused by mutations in the ATP7B gene. To date, more than 300 mutations have been described in this gene. Molecular diagnostics of WD utilizes restriction e
Autor:
Stanislava Kolouskova, Felix Votava, Lenka Fajkusová, Eva Hrabincová, Slávka Pouchlá, Zuzana Vrzalová, Zuzana Hrubá
Publikováno v:
International Journal of Molecular Medicine. 26
Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approxi
Autor:
Kamila Réblová, Jiří Zeman, Slávka Pouchlá, Lenka Fajkusová, Dagmar Procházková, Renata Pazdírková, Zuzana Hrubá
Publikováno v:
Clinica Chimica Acta. 426:157