Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Published in BMC pediatrics (16.12.2021)
Published in BMC pediatrics (16.12.2021)
Get full text
Journal Article
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
Lubanda, Jean-Claude, Anijalg, Ene, Bzdúch, Vladimír, Thurberg, Beth L, Bénichou, Bernard, Tylki-Szymanska, Anna
Published in Genetics in medicine (01.04.2009)
Published in Genetics in medicine (01.04.2009)
Get full text
Journal Article
Reversible asphyxial status in a newborn due to neonatal form of carnitine palmitoyltransferase II deficiency
Brucknerova, Ingrid, Bzduch, Vladimir, Behulova, Darina, Ferianec, Vladimír, Dubovicky, Michal, Ujhazy, Eduard, Mach, Mojmir
Published in Neuro-endocrinology letters (01.10.2008)
Get more information
Published in Neuro-endocrinology letters (01.10.2008)
Journal Article
Lack of association between peripheral activity of thyroid hormones and elevated TSH levels in childhood obesity
Lobotková, Denisa, Staníková, Daniela, Staník, Juraj, Cervenová, Ol'ga, Bzdúch, Vladimír, Tichá, L'ubica
Published in Journal of clinical research in pediatric endocrinology (2014)
Published in Journal of clinical research in pediatric endocrinology (2014)
Get full text
Journal Article
Ophthalmological finding in a patient with lowe syndrome
Tomčíková, D, Gerinec, A, Bzdúch, V, Krásnik, V, Bušányová, B, Brennerová, K
Published in Česká a slovenská oftalmologie (2018)
Published in Česká a slovenská oftalmologie (2018)
Get more information
Journal Article
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report
Horn, František, Petrík, Michal, Dúbravová, Dana, Hornová, Jarmila, Brennerová, Katrína, Bzduch, Vladimír
Published in Child's nervous system (01.11.2018)
Published in Child's nervous system (01.11.2018)
Get full text
Journal Article
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum
Ziburová, Jana, Nemčovič, Marek, Šesták, Sergej, Bellová, Jana, Pakanová, Zuzana, Siváková, Barbara, Šalingová, Anna, Šebová, Claudia, Ostrožlíková, Mária, Lekka, Dimitra‐Evanthia, Brucknerová, Jana, Brucknerová, Ingrid, Skokňová, Martina, Mc Cullough, Alexandra, Hrčková, Gabriela, Hlavatá, Anna, Bzdúch, Vladimír, Mucha, Ján, Baráth, Peter
Published in American journal of medical genetics. Part A (01.11.2021)
Published in American journal of medical genetics. Part A (01.11.2021)
Get full text
Journal Article
TMEM70 deficiency: long-term outcome of 48 patients
Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Eminoğlu, Fatma Tuba, Mayr, Johannes Adalbert, Koch, Johannes, Martinelli, Diego, Bertini, Enrico, Konstantopoulou, Vassiliki, Smet, Joél, Rahman, Shamima, Broomfield, Alexander, Stojanović, Vesna, Dionisi-Vici, Carlo, van Coster, Rudy, Morava-Kozicz, Eva, Sperl, Wolfgang, Zeman, Jiri, Honzik, Tomas
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
Get full text
Journal Article
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, Grüneberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
Get full text
Journal Article
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
Zahorakova, Daniela, Rosipal, Robert, Hadac, Jan, Zumrova, Alena, Bzduch, Vladimir, Misovicova, Nadezda, Baxova, Alice, Zeman, Jiri, Martasek, Pavel
Published in Journal of human genetics (01.04.2007)
Published in Journal of human genetics (01.04.2007)
Get full text
Journal Article
Historical aspects of the Smith-Lemli-Opitz syndrome
Bzdúch, Vladimir, Behúlová, Darina, Skodová, Jozefína, Skokňová, Martina, Kozák, Libor
Published in Časopis lékařů českých (2014)
Get more information
Published in Časopis lékařů českých (2014)
Journal Article
Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)
Kozák, Libor, Francová, Hana, Fajkusová, Lenka, Pijácková, Anna, Macku, Jindriška, Štastná, Sylvie, Peškovová, Karolína, Martincová, Olga, Krijt, Jakub, Bzdúch, Vladimír
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
Get full text
Journal Article
PERSONALITY CHARACTERISTICS OF ADOLESCENTS AND ADULTS WITH WILLIAMS SYNDROME AND DOWN SYNDROME
Jariabková, Katarína, Ruisel, Imrich, Andreánska, Viera, Bzdúch, Vladimír
Published in Studia psychologica (01.01.2006)
Get full text
Published in Studia psychologica (01.01.2006)
Journal Article
Cataract and early nystagmus due to galactokinase deficiency
Bzduch, Vladimir, Tomcikova, Dana, Gerinec, Anton, Behulova, Darina
Published in Journal of inherited metabolic disease (01.09.2017)
Published in Journal of inherited metabolic disease (01.09.2017)
Get full text
Journal Article
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
Stanik, Juraj, Skopkova, Martina, Brennerova, Katarina, Danis, Daniel, Rosolankova, Monika, Salingova, Anna, Bzduch, Vladimir, Klimes, Iwar, Gasperikova, Daniela
Published in Diabetes research and clinical practice (01.04.2017)
Published in Diabetes research and clinical practice (01.04.2017)
Get full text
Journal Article