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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: brucknerova i. Bratisl Lek Listy. 2021;122(3):190-195. doi: 10.4149/BLL_2021_030. Bratisl Lek Listy. 2021. PMID: 33618527
Zika virus infection from a newborn point of view. TORCH or TORZiCH?
Tahotná A, Brucknerová J, Brucknerová I. Tahotná A, et al. Among authors: brucknerova i. Interdiscip Toxicol. 2018 Dec;11(4):241-246. doi: 10.2478/intox-2018-0023. Epub 2019 Oct 18. Interdiscip Toxicol. 2018. PMID: 31762675 Free PMC article. Review.
Rare causes of respiratory insufficiency in newborns.
Brucknerová J, Babala J, Ujházy E, Mach M, Juránek I, Brucknerová I. Brucknerová J, et al. Among authors: brucknerova i. Physiol Res. 2020 Dec 31;69(Suppl 4):S637-S647. doi: 10.33549/physiolres.934613. Physiol Res. 2020. PMID: 33646006 Free PMC article.
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: brucknerova i. 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.
48 results