Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C

द्वारा Dvorakova, Veronika, Magner, Martin, Honzik, Tomas
में प्रकाशित Mol Genet Metab Rep (2014)

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

द्वारा Sikora, Jakub, Jedlickova, Ivana, Pristoupilova, Anna, Stranecky, Viktor, Honzik, Tomas
में प्रकाशित Ann Clin Transl Neurol (2021)

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

द्वारा Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor
प्रकाशित 2010

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic coppe...

द्वारा Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana
में प्रकाशित J Inherit Metab Dis (2020)

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

द्वारा Farolfi, Martina, Cechova, Anna, Ondruskova, Nina, Zidkova, Jana, Kousal, Bohdan, Hansikova, Hana, Honzik, Tomas, Liskova, Petra
में प्रकाशित BMC Ophthalmol (2021)

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

द्वारा Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta
प्रकाशित 2014

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

द्वारा Danhelovska, Tereza, Kolarova, Hana, Zeman, Jiri, Hansikova, Hana, Vaneckova, Manuela, Lambert, Lukas, Kucerova-Vidrova, Vendula, Berankova, Kamila, Honzik, Tomas, Tesarova, Marketa
में प्रकाशित BMC Pediatr (2020)

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

द्वारा Slaba, Katerina, Noskova, Hana, Vesela, Petra, Tuckova, Jana, Jicinska, Hana, Honzik, Tomas, Hansikova, Hana, Kleiblova, Petra, Stourac, Petr, Jabandziev, Petr, Slaby, Ondrej, Prochazkova, Dagmar
में प्रकाशित Front Genet (2020)

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

द्वारा Anteneová, Nicole, Kelifová, Silvie, Kolářová, Hana, Vondráčková, Alžběta, Tóthová, Iveta, Lišková, Petra, Magner, Martin, Zámečník, Josef, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta, Honzík, Tomáš
में प्रकाशित Brain Sci (2020)

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

द्वारा Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
प्रकाशित 2008

Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation

द्वारा Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
प्रकाशित 2014

Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients with Cholesteryl Ester Storage Disease

द्वारा Balwani, Manisha, Breen, Catherine, Enns, Gregory M, Deegan, Patrick B, Honzík, Tomas, Jones, Simon, Kane, John P, Malinova, Vera, Sharma, Reena, Stock, Eveline O, Valayannopoulos, Vassili, Wraith, J Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G
प्रकाशित 2013

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

द्वारा Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
में प्रकाशित Mol Genet Metab Rep (2016)

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

द्वारा Čechová, Anna, Altassan, Ruqaiah, Borgel, Delphine, Bruneel, Arnaud, Correia, Joana, Girard, Muriel, Harroche, Annie, Kiec-Wilk, Beata, Mohnike, Klaus, Pascreau, Tiffany, Pawliński, Łukasz, Radenkovic, Silvia, Vuillaumier-Barrot, Sandrine, Aldamiz-Echevarria, Luis, Couce, Maria Luz, Martins, Esmeralda G., Quelhas, Dulce, Morava, Eva, de Lonlay, Pascale, Witters, Peter, Honzík, Tomáš
में प्रकाशित J Inherit Metab Dis (2020)

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

द्वारा Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
में प्रकाशित J Inherit Metab Dis (2021)

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency

द्वारा Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B., Enns, Gregory M., Jones, Simon A., Kane, John P., Stock, Eveline O., Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S., Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A., Sharma, Reena, Twelves, Chris, Whitley, Chester B., Quinn, Anthony G.
प्रकाशित 2014

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

द्वारा Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
प्रकाशित 2014

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

द्वारा Radenkovic, Silvia, Bird, Matthew J., Emmerzaal, Tim L., Wong, Sunnie Y., Felgueira, Catarina, Stiers, Kyle M., Sabbagh, Leila, Himmelreich, Nastassja, Poschet, Gernot, Windmolders, Petra, Verheijen, Jan, Witters, Peter, Altassan, Ruqaiah, Honzik, Tomas, Eminoglu, Tuba F., James, Phillip M., Edmondson, Andrew C., Hertecant, Jozef, Kozicz, Tamas, Thiel, Christian, Vermeersch, Pieter, Cassiman, David, Beamer, Lesa, Morava, Eva, Ghesquière, Bart
में प्रकाशित Am J Hum Genet (2019)

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

द्वारा Gstrein, Thomas, Edwards, Andrew, Přistoupilová, Anna, Leca, Ines, Breuss, Martin, Pilat-Carotta, Sandra, Hansen, Andi H., Tripathy, Ratna, Traunbauer, Anna K., Hochstoeger, Tobias, Rosoklija, Gavril, Repic, Marco, Landler, Lukas, Stránecký, Viktor, Dürnberger, Gerhard, Keane, Thomas M., Zuber, Johannes, Adams, David J., Flint, Jonathan, Honzik, Tomas, Gut, Marta, Beltran, Sergi, Mechtler, Karl, Sherr, Elliott, Kmoch, Stanislav, Gut, Ivo, Keays, David A.
में प्रकाशित Nat Neurosci (2018)

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

द्वारा Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Brocke Holmefjord, Katja S., Mork, Marit, Bowling, Francis, Cegielska, Jolanta Sykut, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K. Michael, Raymond, Kimiyo, Bakar, Nurulamin Abu, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda, He, Miao, Lefeber, Dirk, Thiel, Christian, Kozicz, Tamas, Morava, Eva
में प्रकाशित Genet Med (2017)