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Page 1
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: salingova a. Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030. Bratisl Lek Listy. 2021. PMID: 33618527
Metabolic cause of Reye-like syndrome.
Bzduch V, Behulova D, Lehnert W, Fabriciova K, Kozak L, Salingova A, Hrabincova E, Benedekova M. Bzduch V, et al. Among authors: salingova a. Bratisl Lek Listy. 2001;102(9):427-9. Bratisl Lek Listy. 2001. PMID: 11763681
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: salingova a. 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: salingova a. 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.
N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.
Kodríková R, Pakanová Z, Krchňák M, Šedivá M, Šesták S, Květoň F, Beke G, Šalingová A, Skalická K, Brennerová K, Jančová E, Baráth P, Mucha J, Nemčovič M. Kodríková R, et al. Among authors: salingova a. Biomedicines. 2023 Feb 16;11(2):580. doi: 10.3390/biomedicines11020580. Biomedicines. 2023. PMID: 36831116 Free PMC article.