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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: hrckova g. 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.
Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
Hrčková G, Hegyi E, Skalická K, Čierna I, Dallos T, Ilenčíková D. Hrčková G, et al. Nefrologia (Engl Ed). 2020 May-Jun;40(3):351-355. doi: 10.1016/j.nefro.2019.09.003. Epub 2019 Dec 18. Nefrologia (Engl Ed). 2020. PMID: 31862184 Free article. Review. English, Spanish.
Prevalence of Hypertension in Children with Early-Stage ADPKD.
Massella L, Mekahli D, Paripović D, Prikhodina L, Godefroid N, Niemirska A, Ağbaş A, Kalicka K, Jankauskiene A, Mizerska-Wasiak M, Afonso AC, Salomon R, Deschênes G, Ariceta G, Özçakar ZB, Teixeira A, Duzova A, Harambat J, Seeman T, Hrčková G, Lungu AC, Papizh S, Peco-Antic A, De Rechter S, Giordano U, Kirchner M, Lutz T, Schaefer F, Devuyst O, Wühl E, Emma F. Massella L, et al. Among authors: hrckova g. Clin J Am Soc Nephrol. 2018 Jun 7;13(6):874-883. doi: 10.2215/CJN.11401017. Epub 2018 Apr 19. Clin J Am Soc Nephrol. 2018. PMID: 29674338 Free PMC article.
65 results