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Inherited metabolic disorders of glycoconjugate metabolism.
Pakanova Z, Nemcovic M, Ziburova J, Mucha J, Salingova A, Sebova C, Jurickova K, Barath P. Pakanova Z, et al. Among authors: ziburova j. 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. 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.
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: ziburova j. Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030. Bratisl Lek Listy. 2021. PMID: 33618527