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

por Dvorakova, Veronika, Magner, Martin, Honzik, Tomas
Publicado 2014

Vascular presentation of cystathionine beta-synthase deficiency in adulthood

por Magner, Martin, Krupková, Lucie, Honzík, Tomáš, Zeman, Jiří, Hyánek, Josef, Kožich, Viktor
Publicado 2010

Searching for COVID-19 Antibodies in Czech Children—A Needle in the Haystack

por Bloomfield, Marketa, Pospisilova, Iva, Cabelova, Tamara, Sediva, Anna, Ibrahimova, Marketa, Borecka, Klara, Magner, Martin
Publicado 2020

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

por Diaz-Ordoñez, Lorena, Candelo, Estephania, Silva-Cuero, Katherine, Saldarriaga, Wilmar, Murgašová, Lenka, Magner, Martin, Pachajoa, Harry
Publicado 2022

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

por Malinová, Věra, Poupětová, Helena, Řeboun, Martin, Dvořáková, Lenka, Reichmannová, Stella, Švandová, Ivana, Murgašová, Lenka, Kasper, David C., Magner, Martin
Publicado 2023

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries

por Magner, Martin, Almássy, Zsuzsanna, Gucev, Zoran, Kieć-Wilk, Beata, Plaiasu, Vasilica, Tylki-Szymańska, Anna, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina
Publicado 2022

Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study

por Magner, Martin, Thorová, Kateřina, Župová, Veronika, Houška, Milan, Švandová, Ivana, Novotná, Pavla, Tříska, Jan, Vrchotová, Naděžda, Soural, Ivo, Jílek, Ladislav
Publicado 2023

Factors Influencing Sulforaphane Content in Broccoli Sprouts and Subsequent Sulforaphane Extraction

por Tříska, Jan, Balík, Josef, Houška, Milan, Novotná, Pavla, Magner, Martin, Vrchotová, Naděžda, Híc, Pavel, Jílek, Ladislav, Thorová, Kateřina, Šnurkovič, Petr, Soural, Ivo
Publicado 2021

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

por Anteneová, Nicole, Kelifová, Silvie, Kolářová, Hana, Vondráčková, Alžběta, Tóthová, Iveta, Lišková, Petra, Magner, Martin, Zámečník, Josef, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta, Honzík, Tomáš
Publicado 2020

B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C)

por Klocperk, Adam, Bloomfield, Marketa, Parackova, Zuzana, Aillot, Ludovic, Fremuth, Jiri, Sasek, Lumir, David, Jan, Fencl, Filip, Skotnicova, Aneta, Rejlova, Katerina, Magner, Martin, Hrusak, Ondrej, Sediva, Anna
Publicado 2023

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

por Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Publicado 2009

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

por Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina
Publicado 2022