The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavymi vrodenymi metabolickymi chorobami v SR von Hlavatá, A

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Increased Plasma Levels of the High Mobility Group Box 1 Protein (HMGB1) Are Associated With a Higher Score of Gastrointestinal Dysfunction in Individuals With Autism von BABINSKÁ, K., BUCOVÁ, M., ĎURMANOVÁ, V., LAKATOŠOVÁ, S., JÁNOŠÍKOVÁ, D., BAKOŠ, J., HLAVATÁ, A., OSTATNÍKOVÁ, D.

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Trends in Natural Products 2024, PSE, Young Scientists' Meeting Phytochemical Society of Europe (PSE): Bioactive Natural Products in Biology, Pharmacy and Cosmetics. Book of Abstra...

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Redox Homeostasis in Pancreatic β Cells von Ježek, Petr, Dlasková, Andrea, Plecitá-Hlavatá, Lydie

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New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations von Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H.C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., Ilenčíková, D.

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Orphan drugs used for treatment in pediatric patients in the slovak republic von Foltánová, T, Konecný, M, Hlavatá, A, Stepánková, K, Cisárik, F

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Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1 von Bolceková, A, Hlavatá, A, Zat, A 'ková, Némethová, M, Holobradá, M, Sýkora, P, Gerinec, A, Husáková, K, Ilencíková, D, Kovács, L

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Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II von Dvorakova, L., Vlaskova, H., Sarajlija, A., Ramadza, D. P., Poupetova, H., Hruba, E., Hlavata, A., Bzduch, V., Peskova, K., Storkanova, G., Kecman, B., Djordjevic, M., Baric, I., Fumic, K., Barisic, I., Reboun, M., Kulhanek, J., Zeman, J., Magner, M.

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Rasopathies - dysmorphic syndromes with short stature and risk of malignancy von Cizmarova, M, Kostalova, L, Pribilincova, Z, Lasabova, Z, Hlavata, A, Kovacs, L, Ilencikova, D

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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe von Čizmárová, M., Hlinková, K., Bertok, S., Kotnik, P., Duba, H.C., Bertalan, R., Poločková, K., Košťálová, Ľ., Pribilincová, Z., Hlavatá, A., Kovács, L., Ilenčíková, D.

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Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma von Bolcekova, A, Nemethova, M, Zatkova, A, Hlinkova, K, Pozgayova, S, Hlavata, A, Kadasi, L, Durovcikova, D, Gerinec, A, Husakova, K, Pavlovicova, Z, Holobrada, M, Kovacs, L, Ilencikova, D

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Late onset form of Pompe disease von Mattosova, S, Hlavata, A, Spalek, P, Kotysova, L, Macekova, D, Chandoga, J

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Ratio of lipid parameters to coenzyme Q10 could be used as biomarker of the development of early complications of obesity in children von Gvozdjakova, A, Kucharska, J, Tkacov, M, Singh, R B, Hlavata, A

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Problems of metabolic syndrome diagnostics in children von Vitariusova, E, Kostalova, L, Pribilincova, Z, Hlavata, A, Kovacs, L

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort... von Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

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MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences von Brennerova, K., Bzduch, V., Behulova, D., Hlavata, A., Skoknova, M., Podracka, L.

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Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease von Runhart, Esmee H, Khan, Mubeen, Cornelis, Stéphanie S, Roosing, Susanne, Del Pozo-Valero, Marta, Lamey, Tina M, Liskova, Petra, Roberts, Lisa, Stöhr, Heidi, Klaver, Caroline C. W, Hoyng, Carel B, Cremers, Frans P. M, Dhaenens, Claire-Marie

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Immunogenicity and Tolerability of Recombinant Serogroup B Meningococcal Vaccine Administered With or Without Routine Infant Vaccinations According to Different Immunization Schedu... von Gossger, Nicoletta, Snape, Matthew D, Yu, Ly-Mee, Finn, Adam, Bona, Gianni, Esposito, Susanna, Principi, Nicola, Diez-Domingo, Javier, Sokal, Etienne, Becker, Birgitta, Kieninger, Dorothee, Prymula, Roman, Dull, Peter, Ypma, Ellen, Toneatto, Daniela, Kimura, Alan, Pollard, Andrew J, European MenB Vaccine Study Group, for the

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Rare disease day, conference 29.2.2012 - Poster Session

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Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia von Salingova, A., Behulova, D., Brennerova, K., Hlavata, A., Saligova, J., Halova, K., Chandoga, J., Mucha, J., Matulova, M.

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