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)
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Journal Article
Ketogenic diet in the treatment of refractory epilepsy
Kolníková, M, Sýkora, P, Klčová, V, Bzdúch, V, Fabríciová, K, Behúlová, D
Published in European journal of paediatric neurology (2008)
Published in European journal of paediatric neurology (2008)
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Journal Article
Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
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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Journal Article
Molecular analysis of genes involved in lipoprotein lipase deficiency in Slovak patients with familial chylomicronemia
Gabcova, D, Stanikova, D, Huckova, M, Bzduch, V, Stanik, J, Klimes, I, Raslova, K, Gasperikova, D
Published in Atherosclerosis (01.09.2016)
Published in Atherosclerosis (01.09.2016)
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Journal Article
Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation
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
Published in Bratislavské lékarské listy (2021)
Published in Bratislavské lékarské listy (2021)
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Journal Article
GAI - distinct genotype and phenotype characteristics in reported Slovak patients
Lisyova, J, Petrovic, R, Jurickova, K, Brennerova, K, Urbanova, D, Behulova, D, Bzduch, V, Chandoga, J
Published in Bratislavské lékarské listy (01.01.2016)
Published in Bratislavské lékarské listy (01.01.2016)
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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)
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Journal Article
Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome
Bzduch, V., Behulova, D., Kozak, L.
Published in Journal of inherited metabolic disease (01.04.2007)
Published in Journal of inherited metabolic disease (01.04.2007)
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Journal Article
Transient hyperphosphatasemia of infancy and childhood: study of 194 cases
Behúlová, D, Bzdúch, V, Holesová, D, Vasilenková, A, Ponec, J
Published in Clinical chemistry (Baltimore, Md.) (01.11.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2000)
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Journal Article
Glucose transporter type 1 (GLUT-1) deficiency
Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V
Published in Bratislavské lékarské listy (2008)
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Published in Bratislavské lékarské listy (2008)
Journal Article
Glucose transporter type 1 (GLUT-1) deficiency
Bzduch, V, Sykora, P, Behulova, D, Kolnikova, M, Klcova, V
Published in Bratislavské lékarské listy (2008)
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Published in Bratislavské lékarské listy (2008)
Journal Article
Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families
KOZAK, L, FRANCOVA, H, HRABINCOVA, E, PROCHAZKOVA, D, JÜTTNEROVA, V, BZDUCH, V, SIMEK, P
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Journal Article
Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome
Behúlová, D., Bzdúch, V., Škodová, J., Dello Russo, A., Corso, G., Ponec, J., Kasanická, A.
Published in Journal of inherited metabolic disease (01.06.2000)
Published in Journal of inherited metabolic disease (01.06.2000)
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Journal Article
MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences
Brennerova, K., Bzduch, V., Behulova, D., Hlavata, A., Skoknova, M., Podracka, L.
Published in Clinical nutrition (Edinburgh, Scotland) (01.09.2017)
Published in Clinical nutrition (Edinburgh, Scotland) (01.09.2017)
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Journal Article
Rare disease day, conference 29.2.2012 - Poster Session
Published in Acta Facultatis Pharmaceuticae Universitatis Comenianae
(01.01.2012)
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Journal Article
Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol
Bzdúch, V., Behúlová, D., Kozák, L., Škodová, J., Véghová, E., Dello Russo, A., Corso, G., Bauer, F.
Published in Journal of inherited metabolic disease (01.09.2000)
Published in Journal of inherited metabolic disease (01.09.2000)
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Journal Article