Rebeka Kodrikova
Overview
Explore the profile of Rebeka Kodrikova including associated specialties, affiliations and a list of published articles.
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2
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2
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Recent Articles
1.
Del Greco C, Kuo M, Smith D, Mendes M, Salamons G, Nemcovic M, et al.
Mol Genet Genomic Med
. 2025 Feb;
13(2):e70078.
PMID: 39963003
Background: Mutations in cysteinyl-tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. Methods: Here, we present a patient with...
2.
Krchnak M, Kodrikova R, Matulova M, Nemcovic M, Uhliarikova I, Katrlik J, et al.
Front Biosci (Landmark Ed)
. 2023 Mar;
28(2):39.
PMID: 36866557
Background: Alpha-mannosidosis is a rare lysosomal storage disorder, caused by decreased activity of α-D-mannosidase. This enzyme is involved in the hydrolysis of mannosidic linkages in N-linked oligosaccharides. Due to the...
3.
Kodrikova R, Pakanova Z, Krchnak M, Sediva M, Sestak S, Kveton F, et al.
Biomedicines
. 2023 Feb;
11(2).
PMID: 36831116
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive...