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Page 1
Inherited metabolic disorders of glycoconjugate metabolism.
Bratisl Lek Listy. 2020;121(10):760-766. doi: 10.4149/BLL_2020_124.
Bratisl Lek Listy. 2020.
PMID: 32955910
Review.
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P.
Ziburová J, et al. Among authors: sebova c.
Am J Med Genet A. 2021 Nov;185(11):3494-3501. doi: 10.1002/ajmg.a.62474. Epub 2021 Sep 1.
Am J Med Genet A. 2021.
PMID: 34467644
Free PMC article.
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Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation.
Lekka DE, 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.
Lekka DE, et al. Among authors: sebova c.
Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030.
Bratisl Lek Listy. 2021.
PMID: 33618527
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Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project.
Vohnout B, Raslová K, Gasparovic J, Franeková J, Fábryová L, Belosovicová M, Kovác G, Sebová C, Rajecová E, Stavný J, Babjak M, Donati MB, Iacoviello L.
Vohnout B, et al. Among authors: sebova c.
Atheroscler Suppl. 2003 Nov;4(3):3-5. doi: 10.1016/s1567-5688(03)00023-0.
Atheroscler Suppl. 2003.
PMID: 14615272
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Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Brucknerova I, Behulova D, Sebova C, Bzduch V, Mach M, Dubovicky M, Ujhazy E.
Brucknerova I, et al. Among authors: sebova c.
Neuro Endocrinol Lett. 2009;30 Suppl 1:29-31.
Neuro Endocrinol Lett. 2009.
PMID: 20027140
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