The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
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
Published in Orphanet journal of rare diseases (24.03.2022)
Published in Orphanet journal of rare diseases (24.03.2022)
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Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment
Jurickova, Katarina, Jungova, Petra, Petrovic, Robert, Mattosova, Slavomira, Hlavata, Tereza, Kostalova, Ludmila, Hlavata, Anna
Published in Journal of personalized medicine (01.06.2022)
Published in Journal of personalized medicine (01.06.2022)
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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
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
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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FOOD INTAKE, LEISURE TIME ACTIVITIES AND THE PREVALENCE OF OBESITY IN SCHOOLCHILDREN IN SLOVAKIA
VITARIUSOVA, Eva, BABINSKA, Katarína, KOST'ALOVA, L'udmila, ROSINSKY, Jozef, HLAVATA, Anna, PRIBILINCOVA, Zuzana, BABINSKA, Katarina, KOVACS, László
Published in Central European journal of public health (01.12.2010)
Published in Central European journal of public health (01.12.2010)
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The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis
Krchňák, Maroš, Kodríková, Rebeka, Matulová, Mária, Nemčovič, Marek, Uhliariková, Iveta, Katrlík, Jaroslav, Šalingová, Anna, Hlavatá, Anna, Juríčková, Katarína, Baráth, Peter, Mucha, Ján, Pakanová, Zuzana
Published in Frontiers in bioscience (Landmark. Print) (28.02.2023)
Published in Frontiers in bioscience (Landmark. Print) (28.02.2023)
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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)
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Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA
Pančík, Filip, Pakanová, Zuzana, Nemčovič, Marek, Květoň, Filip, Šalingová, Anna, Hlavatá, Anna, Kozmon, Stanislav, Baráth, Peter
Published in Journal of inborn errors of metabolism and screening (2023)
Published in Journal of inborn errors of metabolism and screening (2023)
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Evaluation of lipid and glucose metabolism and cortisol and thyroid hormone levels in obese appropriate for gestational age (AGA) born and non-obese small for gestational age (SGA) born prepubertal Slovak children
Blusková, Zuzana, Koštálová, Ľudmila, Celec, Peter, Vitáriušová, Eva, Pribilincová, Zuzana, Maršálková, Marianna, Šemberová, Jana, Kyselová, Tatiana, Hlavatá, Anna, Kovács, László
Published in Journal of Pediatric Endocrinology & Metabolism (01.07.2014)
Published in Journal of Pediatric Endocrinology & Metabolism (01.07.2014)
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White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis
Majovska, Jitka, Nestrasil, Igor, Paulson, Amy, Nascene, David, Jurickova, Katarina, Hlavata, Anna, Lund, Troy, Orchard, Paul J., Vaneckova, Manuela, Zeman, Jiri, Magner, Martin, Dusek, Petr
Published in Molecular genetics and metabolism (01.03.2021)
Published in Molecular genetics and metabolism (01.03.2021)
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The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
Polák, Emil, Vitáriušová, Eva, Celec, Peter, Pribilincová, Zuzana, Košťálová, Ľudmila, Hlavatá, Anna, Kovács, László, Kádaši, Ľudevít
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2016)
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2016)
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Horovitz, Dafne Dain Gandelman, Acosta, Angelina X, Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarína, Tchan, Michel C, Lopes Barth, Anneliese, Cardoso, Jr, Laercio, Embiruçu de Araújo Leão, Emília Katiane, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Martins, Ana Maria
Published in Orphanet journal of rare diseases (29.04.2016)
Published in Orphanet journal of rare diseases (29.04.2016)
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Molecular diagnosis of Pompe disease using MALDI TOF/TOF and 1H NMR
Pakanová, Zuzana, Matulová, Mária, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Pätoprstý, Vladimír, Mucha, Ján
Published in Chemical papers (01.03.2016)
Published in Chemical papers (01.03.2016)
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Quantitative brain MRI in patients with alpha-mannosidosis: Study from 3 centers
Nestrasil, Igor, Paulson, Amy, Jireckova, Jitka, Nascene, David, Vaneckova, Manuela, Jurickova, Katarina, Hlavata, Anna, Lund, Troy, Orchard, Paul, Dusek, Petr, Magner, Martin
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Thirty‐Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients
Nemethova, Martina, Bolcekova, Anna, Ilencikova, Denisa, Durovcikova, Darina, Hlinkova, Katarina, Hlavata, Anna, Kovacs, Laszlo, Kadasi, Ludevit, Zatkova, Andrea
Published in Annals of human genetics (01.09.2013)
Published in Annals of human genetics (01.09.2013)
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Journal Article
Thirty-Nine Novel Neurofibromatosis 1 ( NF1) Gene Mutations Identified in Slovak Patients: NF1 in Slovakia
Nemethova, Martina, Bolcekova, Anna, Ilencikova, Denisa, Durovcikova, Darina, Hlinkova, Katarina, Hlavata, Anna, Kovacs, Laszlo, Kadasi, Ludevit, Zatkova, Andrea
Published in Annals of human genetics (01.09.2013)
Published in Annals of human genetics (01.09.2013)
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Case study: monitoring of Glc4 tetrasaccharide in the urine of Pompe patients, use of MALDI-TOF MS, and 1H NMR
Pakanová, Zuzana, Matulová, Mária, Uhliariková, Iveta, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Juríčková, Katarína, Nemčovič, Marek, Pätoprstý, Vladimír, Mucha, Ján
Published in Chemical papers (01.03.2019)
Published in Chemical papers (01.03.2019)
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Association between asymptomatic hyperuricaemia and metabolic syndrome in the adolescents
Koborová, Ivana, Gurecká, Radana, Hlavatá, Anna, Šebeková, Katarína
Published in Vnitřní lékar̆stvĭ (01.01.2015)
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Published in Vnitřní lékar̆stvĭ (01.01.2015)
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis i
Martins, Ana M., Acosta, Angelina X., Giugliani, Roberto, Hlavatá, Anna, Hlavatá, Katarina, Tchan, Michel C., Barth, Anneliese Lopes, Cardoso, Laercio, de Araújo Leão, Emilia Katiane Embiruçu, Esposito, Ana Carolina, Kyosen, Sandra Obikawa, De Souza, Carolina Fischinger Moura, Horovitz, Dafne Dain Gandelman
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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