Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maroš Krchňák"'
Autor:
Maroš Krchňák, Rebeka Kodríková, Mária Matulová, Marek Nemčovič, Iveta Uhliariková, Jaroslav Katrlík, Anna Šalingová, Anna Hlavatá, Katarína Juríčková, Peter Baráth, Ján Mucha, Zuzana Pakanová
Publikováno v:
Frontiers in Bioscience-Landmark, Vol 28, Iss 2, p 39 (2023)
Background: Alpha-mannosidosis is a rare lysosomal storage disorder, caused by decreased activity of α-D-mannosidase. This enzyme is involved in the hydrolysis of mannosidic linkages in N-linked oligosaccharides. Due to the mannosidase defect, undig
Externí odkaz:
https://doaj.org/article/b1d5cf5e688d4082a717eda583be8cca
Autor:
Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič
Publikováno v:
Biomedicines, Vol 11, Iss 2, p 580 (2023)
Congenital disorders of glycosylation (CDG) are a group of rare inherited metabolic disorders caused by a defect in the process of protein glycosylation. In this work, we present a comprehensive glycoprofile analysis of a male patient with a novel mi
Externí odkaz:
https://doaj.org/article/b8f285849fce43669acafaebbecacf11
Autor:
Zuzana Pakanová, Ján Mucha, Peter Baráth, Katarína Juríčková, Anna Hlavatá, Anna Šalingová, Jaroslav Katrlík, Iveta Uhliariková, Marek Nemčovič, Mária Matulová, Rebeka Kodríková, Maroš Krchňák
Publikováno v:
Frontiers in Bioscience-Landmark. 28:39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8399b814deba0ed091a9d41900f57c8
https://doi.org/10.31083/j.fbl2802039
https://doi.org/10.31083/j.fbl2802039