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Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency. [electronic resource] by
- Krijt, Jakub
- Sokolová, Jitka
- Ješina, Pavel
- Dvořáková, Lenka
- Řeboun, Martin
- Brennerová, Katarína
- Mistrík, Martin
- Zeman, Jiří
- Honzík, Tomáš
- Kožich, Viktor
Producer: 20170731
In:
Clinical chemistry and laboratory medicine vol. 55
Availability: No items available.
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Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats. [electronic resource] by
- Pravenec, Michal
- Kozich, Viktor
- Krijt, Jakub
- Sokolová, Jitka
- Zídek, Václav
- Landa, Vladimír
- Simáková, Miroslava
- Mlejnek, Petr
- Silhavy, Jan
- Oliyarnyk, Olena
- Kazdová, Ludmila
- Kurtz, Theodore W
Producer: 20130725
In:
American journal of hypertension vol. 26
Availability: No items available.
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Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency. [electronic resource] by
- Musalkova, Dita
- Sticova, Eva
- Reboun, Martin
- Sokolova, Jitka
- Krijt, Jakub
- Honzikova, Jitka
- Gurka, Jiri
- Neroldova, Magdalena
- Honzik, Tomas
- Zeman, Jiri
- Jirsa, Milan
- Dvorakova, Lenka
- Hrebicek, Martin
Producer: 20180619
In:
Virchows Archiv : an international journal of pathology vol. 472
Availability: No items available.
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The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. [electronic resource] by
- Linnebank, Michael
- Janosik, Miroslav
- Kozich, Viktor
- Pronicka, Ewa
- Kubalska, Jolanta
- Sokolova, Jitka
- Linnebank, Anja
- Schmidt, Eva
- Leyendecker, Christina
- Klockgether, Thomas
- Kraus, Jan Peter
- Koch, Hans Georg
Producer: 20050331
In:
Human mutation vol. 24
Availability: No items available.
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Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. [electronic resource] by
- Honzík, Tomáš
- Magner, Martin
- Krijt, Jakub
- Sokolová, Jitka
- Vugrek, Oliver
- Belužić, Robert
- Barić, Ivo
- Hansíkova, Hana
- Elleder, Milan
- Veselá, Kateřina
- Bauerová, Lenka
- Ondrušková, Nina
- Ješina, Pavel
- Zeman, Jiří
- Kožich, Viktor
Producer: 20130327
In:
Molecular genetics and metabolism vol. 107
Availability: No items available.
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Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome. [electronic resource] by
- Pravenec, Michal
- Kožich, Viktor
- Krijt, Jakub
- Sokolová, Jitka
- Zídek, Václav
- Landa, Vladimír
- Mlejnek, Petr
- Šilhavý, Jan
- Šimáková, Miroslava
- Škop, Vojtěch
- Trnovská, Jaroslava
- Kazdová, Ludmila
- Kajiya, Takashi
- Wang, Jiaming
- Kurtz, Theodore W
Producer: 20160517
In:
Hypertension (Dallas, Tex. : 1979) vol. 67
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Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. [electronic resource] by
- Burda, Patricie
- Schäfer, Alexandra
- Suormala, Terttu
- Rummel, Till
- Bürer, Céline
- Heuberger, Dorothea
- Frapolli, Michele
- Giunta, Cecilia
- Sokolová, Jitka
- Vlášková, Hana
- Kožich, Viktor
- Koch, Hans Georg
- Fowler, Brian
- Froese, D Sean
- Baumgartner, Matthias R
Producer: 20160301
In:
Human mutation vol. 36
Availability: No items available.
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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia. [electronic resource] by
- Svaton, Michael
- Skvarova Kramarzova, Karolina
- Kanderova, Veronika
- Mancikova, Andrea
- Smisek, Petr
- Jesina, Pavel
- Krijt, Jakub
- Stiburkova, Blanka
- Dobrovolny, Robert
- Sokolova, Jitka
- Bakardjieva-Mihaylova, Violeta
- Vodickova, Elena
- Rackova, Marketa
- Stuchly, Jan
- Kalina, Tomas
- Stary, Jan
- Trka, Jan
- Fronkova, Eva
- Kozich, Viktor
Producer: 20210219
In:
Blood vol. 135
Availability: No items available.
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Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. [electronic resource] by
- Vyletal, Petr
- Sokolová, Jitka
- Cooper, David N
- Kraus, Jan P
- Krawczak, Michael
- Pepe, Guglielmina
- Rickards, Olga
- Koch, Hans G
- Linnebank, Michael
- Kluijtmans, Leo A J
- Blom, Henk J
- Boers, Godfried H J
- Gaustadnes, Mette
- Skovby, Flemming
- Wilcken, Bridget
- Wilcken, David E L
- Andria, Generoso
- Sebastio, Gianfranco
- Naughten, Eileen R
- Yap, Sufin
- Ohura, Toshihiro
- Pronicka, Ewa
- Laszlo, Aranka
- Kozich, Viktor
Producer: 20070316
In:
Human mutation vol. 28
Availability: No items available.
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