Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders von Janečková, Hana, Hron, Karel, Wojtowicz, Petr, Hlídková, Eva, Barešová, Anna, Friedecký, David, Žídková, Lenka, Hornik, Petr, Behúlová, Darina, Procházková, Dagmar, Vinohradská, Hana, Pešková, Karolína, Bruheim, Per, Smolka, Vratislav, Šťastná, Sylvie, Adam, Tomáš

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Today's view of hereditary thrombophilia von Kvasnička, Jan, Kovářová-Kudrnová, Zuzana, Zenáhlíková, Zuzana, Brzežková, Radka, Šťastná, Sylvie, Bobčíková, Petra, Kvasnička, Tomáš

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Molecular Genetic Analysis of SLC3A1 and SLC7A9 Genes in Czech and Slovak Cystinuric Patients von Škopková, Zuzana, Hrabincová, Eva, Štástná, Sylvie, Kozák, Libor, Adam, Tomáš

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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R) von Kozák, Libor, Francová, Hana, Fajkusová, Lenka, Pijácková, Anna, Macku, Jindriška, Štastná, Sylvie, Peškovová, Karolína, Martincová, Olga, Krijt, Jakub, Bzdúch, Vladimír

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Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5 von Kozák, Libor, Francová, Hana, Hrabincová, Eva, Štastná, Sylvie, Pešková, Karolína, Elleder, Milan

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Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles von KOZÁK, LIBOR, FRANCOVÁ, HANA, PIJÁCKOVÁ, ANNA, MACKU, JINDRIŠKA, ŠTASTNÁ, SYLVIE, PEŠKOVOVÁ, KAROLÍNA, MARTINCOVÁ, OLGA, KRIJT, JAKUB

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Urolitiáza a dědičné metabolické poruchy von Šťastná, Sylvie

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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations von Kozak, L, Blazkova, M, Kuhrova, V, Pijackova, A, Ruzickova, S, St'astna, S

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