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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.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
Majer, F., Vlaskova, H., Krol, L., Kalina, T., Kubanek, M., Stolnaya, L., Dvorakova, L., Elleder, M., Sikora, J.
Published in Gene (01.05.2012)
Published in Gene (01.05.2012)
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Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
Storkanova, G, Vlaskova, H, Chuzhanova, N, Zeman, J, Stranecky, V, Majer, F, Peskova, K, Luksan, O, Jirsa, M, Hrebicek, M, Dvorakova, L
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
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Journal Article
Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene
Dieckmann, A., Majer, F., Hulkova, H., Farr, M., Kalina, T., Romeike, B., Vlaskova, H., Brandl, U., Sikora, J., Husain, R. A.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
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Conference Proceeding
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance
Sikora, J, Dvoráková, L, Vlásková, H, Stolnaja, L, Betlach, J, Spacek, J, Elleder, M
Published in Ceskoslovenské patologie (01.07.2007)
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Published in Ceskoslovenské patologie (01.07.2007)
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