Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern
Mohamed, M., Guillard, M., Wortmann, S.B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F.J., Niezen-Koning, K.E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R.A., Lefeber, D.J., Morava, E.
Published in Biochimica et biophysica acta (01.06.2011)
Published in Biochimica et biophysica acta (01.06.2011)
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Journal Article
Hypoglycosylation and disease modifying polymorphism in cystic fibrosis
Marklova, E, Albahri, Z, Vanicek, H, Vavrova, V, Sedlak, V, Ali, A.M
Published in Journal of cystic fibrosis (01.06.2008)
Published in Journal of cystic fibrosis (01.06.2008)
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Journal Article
Genetic variants of transferrin in cystic fibrosis
Marklová, E., Albahri, Z., Vaníček, H., Dědek, P., Vališ, M., Kopáčová, M., Vávrová, V.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
Genetic variants of transferrin in the diagnosis of protein hypoglycosylation
Albahri, Z., Marklová, E., Vaníček, H., Minxová, L., Dédek, P., Skálová, S.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
A new case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
Marklová, E, Verner, P, Pehal, F, Brátová, M, Polák, J
Published in Journal of inherited metabolic disease (01.12.1987)
Published in Journal of inherited metabolic disease (01.12.1987)
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Journal Article
The role of TLC in the screening of inherited metabolic diseases
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Conference Proceeding
Journal Article
HPLC profiling of Trp-related metabolites in humans
Marklová, Eliska, Albahri, Ziad, Nozicková, Marie
Published in Advances in experimental medicine and biology (2003)
Published in Advances in experimental medicine and biology (2003)
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Journal Article
CDG : a new case of a combined defect in the biosynthesis of N- and O-glycans
ALBAHRI, Ziad, MARKLOVA, Eliska, DEDEK, Petr, HOJDIKOVA, Helena, FIEDLER, Zdenek, LEFEBER, Dirk, WEVERS, Ron A, MORAVA, Eva, WOPEREIS, Suzan
Published in European journal of pediatrics (01.03.2006)
Published in European journal of pediatrics (01.03.2006)
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Journal Article
Screening for organic acid disorders
Marklová, E, Brátová, M, Vorísek, V
Published in Acta medica Lékarskí fakulty Univerzity Karlovy v Hradci Králove (1997)
Published in Acta medica Lékarskí fakulty Univerzity Karlovy v Hradci Králove (1997)
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Journal Article
Pitfalls and drawbacks in screening of congenital disorders of glycosylation
Marklová, Eliška, Albahri, Ziad
Published in Clinical chemistry and laboratory medicine (01.01.2004)
Published in Clinical chemistry and laboratory medicine (01.01.2004)
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Journal Article