Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Anna, ŠALINGOVÁ"'
Autor:
Filip Pančík, Zuzana Pakanová, Marek Nemčovič, Filip Květoň, Anna Šalingová, Anna Hlavatá, Stanislav Kozmon, Peter Baráth
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N-sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used
Externí odkaz:
https://doaj.org/article/3057a8bed4784423b7c36be11fca0b28
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
Publikováno v:
Chemical Papers. 77:2193-2199
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5b17a61cccf9dcf2806abca2454856e
https://doi.org/10.1007/s11696-022-02622-1
https://doi.org/10.1007/s11696-022-02622-1
Publikováno v:
Zdravotnicke listy; 2023, Vol. 11 Issue 4, p71-77, 7p
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
Autor:
Katarina Jurickova, Iveta Uhliariková, Ján Mucha, D. Behulova, Vladimír Pätoprstý, Zuzana Pakanová, Anna Šalingová, Anna Hlavatá, Marek Nemčovič, Mária Matulová
Publikováno v:
Chemical Papers. 73:701-711
Due to the lack of the acid 1,4-α-glucosidase, the urine of Pompe patients contains increased levels of specific glucose tetrasaccharide αGlc(1 → 6)αGlc(1 → 4)αGlc(1 → 4)Glc (Glc4), which was approved as a non-invasive biomarker of glycogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::568684074759e4e9082d39923e8e766c
https://doi.org/10.1007/s11696-018-0623-3
https://doi.org/10.1007/s11696-018-0623-3
Publikováno v:
Analytical Biochemistry. 549:113-118
Flow injection analysis-tandem mass spectrometry has become widely used for analysis of many biomarkers in various biological matrices. To improve the sensitivity, the compounds are often determined as their butylesters. Since the concentration of ur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac73f98a9ada6c37f018a2bc12acb452
https://doi.org/10.1016/j.ab.2018.03.018
https://doi.org/10.1016/j.ab.2018.03.018