The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis
Krchňák, Maroš, Kodríková, Rebeka, Matulová, Mária, Nemčovič, Marek, Uhliariková, Iveta, Katrlík, Jaroslav, Šalingová, Anna, Hlavatá, Anna, Juríčková, Katarína, Baráth, Peter, Mucha, Ján, Pakanová, Zuzana
Published in Frontiers in bioscience (Landmark. Print) (28.02.2023)
Published in Frontiers in bioscience (Landmark. Print) (28.02.2023)
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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, Jana, Nemčovič, Marek, Šesták, Sergej, Bellová, Jana, Pakanová, Zuzana, Siváková, Barbara, Šalingová, Anna, Šebová, Claudia, Ostrožlíková, Mária, Lekka, Dimitra‐Evanthia, Brucknerová, Jana, Brucknerová, Ingrid, Skokňová, Martina, Mc Cullough, Alexandra, Hrčková, Gabriela, Hlavatá, Anna, Bzdúch, Vladimír, Mucha, Ján, Baráth, Peter
Published in American journal of medical genetics. Part A (01.11.2021)
Published in American journal of medical genetics. Part A (01.11.2021)
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Journal Article
N -Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Published in Biomedicines (16.02.2023)
Published in Biomedicines (16.02.2023)
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Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA
Pančík, Filip, Pakanová, Zuzana, Nemčovič, Marek, Květoň, Filip, Šalingová, Anna, Hlavatá, Anna, Kozmon, Stanislav, Baráth, Peter
Published in Journal of inborn errors of metabolism and screening (2023)
Published in Journal of inborn errors of metabolism and screening (2023)
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Journal Article
FIA-MS/MS determination of creatinine in urine samples undergoing butylation
Jurdáková, Helena, Górová, Renáta, Addová, Gabriela, Šalingová, Anna, Ostrovský, Ivan
Published in Analytical biochemistry (15.05.2018)
Published in Analytical biochemistry (15.05.2018)
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Journal Article
Molecular diagnosis of Pompe disease using MALDI TOF/TOF and 1H NMR
Pakanová, Zuzana, Matulová, Mária, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Pätoprstý, Vladimír, Mucha, Ján
Published in Chemical papers (01.03.2016)
Published in Chemical papers (01.03.2016)
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Journal Article
IN/I-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant
Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Published in Biomedicines (01.02.2023)
Published in Biomedicines (01.02.2023)
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Case study: monitoring of Glc4 tetrasaccharide in the urine of Pompe patients, use of MALDI-TOF MS, and 1H NMR
Pakanová, Zuzana, Matulová, Mária, Uhliariková, Iveta, Behúlová, Darina, Šalingová, Anna, Hlavatá, Anna, Juríčková, Katarína, Nemčovič, Marek, Pätoprstý, Vladimír, Mucha, Ján
Published in Chemical papers (01.03.2019)
Published in Chemical papers (01.03.2019)
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Journal Article
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation
Stanik, Juraj, Skopkova, Martina, Brennerova, Katarina, Danis, Daniel, Rosolankova, Monika, Salingova, Anna, Bzduch, Vladimir, Klimes, Iwar, Gasperikova, Daniela
Published in Diabetes research and clinical practice (01.04.2017)
Published in Diabetes research and clinical practice (01.04.2017)
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