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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Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation von Lekka, D E, Brucknerova, J, Salingova, A, Sebova, C, Ostrozlikova, M, Ziburova, J, Nemcovic, M, Sestak, S, Bellova, J, Pakanova, Z, Sivakova, B, Skoknova, M, Bzduch, V, Mucha, J, Barath, P, Brucknerova, I

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Molecular analysis of genes involved in lipoprotein lipase deficiency in Slovak patients with familial chylomicronemia von Gabcova, D, Stanikova, D, Huckova, M, Bzduch, V, Stanik, J, Klimes, I, Raslova, K, Gasperikova, D

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GAI - distinct genotype and phenotype characteristics in reported Slovak patients von Lisyova, J, Petrovic, R, Jurickova, K, Brennerova, K, Urbanova, D, Behulova, D, Bzduch, V, Chandoga, J

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Cardiorenal syndrome and later-onset Fabry disease: is there a connection? von Bzduch, V

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Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome von Bzduch, V., Behulova, D., Kozak, L.

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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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Glucose transporter type 1 (GLUT-1) deficiency von Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V

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Glucose transporter type 1 (GLUT-1) deficiency von Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V

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Transient hyperphosphatasemia of infancy and childhood: study of 194 cases von Behúlová, D, Bzdúch, V, Holesová, D, Vasilenková, A, Ponec, J

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Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease von Lubanda, Jean-Claude, Anijalg, Ene, Bzdúch, Vladimír, Thurberg, Beth L, Bénichou, Bernard, Tylki-Szymanska, Anna

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Ophthalmological finding in a patient with lowe syndrome von Tomčíková, D, Gerinec, A, Bzdúch, V, Krásnik, V, Bušányová, B, Brennerová, K

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Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families von KOZAK, L, FRANCOVA, H, HRABINCOVA, E, PROCHAZKOVA, D, JÜTTNEROVA, V, BZDUCH, V, SIMEK, P

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TMEM70 deficiency: long-term outcome of 48 patients von Magner, M, Dvorakova, V, Tesarova, M, Mazurova, S, Hansikova, H, Zahorec, M, Brennerova, K, Bzduch, V, Spiegel, R, Horovitz, Y, Mandel, H, Eminoglu, F.T, Mayr, J.A, Koch, J, Martinelli, D, Bertini, E, Konstantopoulou, V, Smet, J, Rahman, S, Broomfield, A, Stojanovic, V, Dionisi-Vici, C, van Coster, R, Morava, Eva, Sperl, W, Zeman, J, Honzik, T

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Transient hyperphosphatasemia: Revisited diagnostic criteria based on the study of 533 cases von Behulova, D., Sebova, C., Syrova, D., Ostrozlikova, M., Bzduch, V., Vasilenkova, A.

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Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses von Holesova, D., Behulova, D., Salingova, A., Ostrozlikova, M., Sebova, C., Fabriciova, K., Bzduch, V., Hlavata, A.

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Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome von Behúlová, D., Bzdúch, V., Škodová, J., Dello Russo, A., Corso, G., Ponec, J., Kasanická, A.

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Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period von Bzduch, V, Behulova, D, Pevalova, L, Cisarik, F, Benedekova, M

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Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency von Bzduch, V, Behulova, D, Salingova, A, Ponec, J, Fabriciova, K, Kozak, L

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A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene von Bzduch, V, Zahorakova, D, Grechanina, E, Zdibskaja, E P, Goldfarb, I G, Zeman, J, Martasek, P

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