Showing 1 - 19 results of 19 for search 'Tomas Honzik', query time: 0.05s Refine Results
  1. 1
    Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

    Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C by Veronika Dvorakova, Martin Magner, Tomas Honzik

    Published 2015-03-01
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  2. 2
    Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

    Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant? by Jakub Sikora, Ivana Jedlickova, Anna Pristoupilova, Viktor Stranecky, Tomas Honzik

    Published 2021-04-01
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  3. 3
    Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances

    Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances by Nina Ondrušková, Tomáš Honzík, Jitka Kytnarová, Martin Matoulek, Jiří Zeman, Hana Hansíková

    Published 2015-01-01
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  4. 4
    A Novel <i>MTTK</i> Gene Variant m.8315A>C as a Cause of MERRF Syndrome

    A Novel <i>MTTK</i> Gene Variant m.8315A>C as a Cause of MERRF Syndrome by Hana Štufková, Hana Kolářová, Kateřina Lokvencová, Tomáš Honzík, Jiří Zeman, Hana Hansíková, Markéta Tesařová

    Published 2022-07-01
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  5. 5
    ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

    ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings by Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova

    Published 2021-06-01
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  6. 6
    Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

    Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene by Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík, Alena Leiská, Václav Čunát, Markéta Tesařová

    Published 2019-01-01
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  7. 7
    Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

    Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene by Nabil El-Lababidi, Marie Zikánová, Alice Baxová, Lenka Nosková, Alena Leiská, Lukáš Lambert, Tomáš Honzík, Jiří Zeman

    Published 2020-10-01
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  8. 8
    Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency

    Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency by K. Szentiványi, H. Hansíková, J. Krijt, K. Vinšová, M. Tesařová, E. Rozsypalová, P. Klement, J. Zeman, Tomáš Honzík

    Published 2012-01-01
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  9. 9
    Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder

    Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder by Štěpán Kutílek, Eva Rondziková-Mlynarčíková, Kamila Pečenková, Richard Pikner, Toáš Šmída, Eva Sládková, Tomáš Honzík, Eva Sládková, Martin Magner

    Published 2022-06-01
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  10. 10
    Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

    Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome by S. Mazurová, M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek,  A. Vondráčková, J. Zeman, Tomáš Honzík

    Published 2013-01-01
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  11. 11
    Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

    Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes by Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová

    Published 2023-05-01
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  12. 12
    Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

    Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I by Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik, Marketa Tesarova

    Published 2020-01-01
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  13. 13
    Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <i>TCF4</i> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

    Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <i>TCF4</i> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal D... by Lubica Dudakova, Pavlina Skalicka, Alice E. Davidson, Amanda N. Sadan, Monika Chylova, Helena Jahnova, Nicole Anteneova, Marketa Tesarova, Tomas Honzik, Petra Liskova

    Published 2021-11-01
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  14. 14
    The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

    The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions by Nicole Anteneová, Silvie Kelifová, Hana Kolářová, Alžběta Vondráčková, Iveta Tóthová, Petra Lišková, Martin Magner, Josef Zámečník, Hana Hansíková, Jiří Zeman, Markéta Tesařová, Tomáš Honzík

    Published 2020-10-01
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  15. 15
    Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

    Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report by Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova

    Published 2020-10-01
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  16. 16
    Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

    Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr... by Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich, Tomáš Honzík

    Published 2021-08-01
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  17. 17
    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

    Published 2022-12-01
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  18. 18
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

    Published 2020-05-01
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  19. 19
    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

    Published 2021-09-01
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