Zobrazeno 1 - 10
of 99
pro vyhledávání: '"D. Behulova"'
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
Autor:
D Urbanova, Robert Petrovic, Katarina Jurickova, Katarina Brennerova, D. Behulova, Jana Lisyová, Ján Chandoga, Vladimir Bzduch
Publikováno v:
Bratislava Medical Journal. 117:631-638
Objectives The clinical, biochemical and genetic findings in two Slovak patients with glutaric aciduria type I (GAI) are presented. Background GAI is a rare autosomal recessive neuro-metabolic disorder caused by deficiency of glutaryl-CoA dehydrogena
Publikováno v:
Chemical Papers. 71:29-40
This article is aimed to current state of diagnostic and treatment of Canavan disease. Canavan disease is an inherited metabolic disease caused by the absence of enzyme aspartoacylase. Disruption of N-acetylaspartic acid metabolism results in its acc
Autor:
Peter Kotora, Václav Matěj Bierhanzl, Radomír Čabala, Alexandra Hengerics Szabó, Viktória Ferenczy, Jaroslav Blaško, D. Behulova, Róbert Kubinec, Ngô Mạnh Thắng
Publikováno v:
Monatshefte für Chemie - Chemical Monthly. 147:1343-1347
This work focuses on the simultaneous analysis of creatinine and fructose with the gas chromatographic tandem mass spectrometric (GC–MS/MS) method after silylation with hexamethyldisilazane and N,O-bis(trimethylsilyl)trifluoroacetamide and the comp
Autor:
Miroslava Lysinová, Svetozár Dluholucký, D. Behulova, Ján Chandoga, Petra Jungová, Mária Knapková, Jana Lisyová, Marcel Repiský, Martina Machková, Daniel Böhmer, Ľudmila Potočňáková, Jana Saligová
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening conditio
Publikováno v:
Biologia. 69:1784-1789
Folate plays one of the most important functions for nucleotide biosynthesis and cellular methylation reactions in cells. Folate-mediated one-carbon metabolism is essential for metabolic processes in the human body. During periods of rapid cell growt
Autor:
Peter Kotora, Viktória Ferenczy, Radomír Čabala, Ngô Mạnh Thắng, Wojciech Filipiak, Stanislav Stuchlík, Róbert Kubinec, Václav Matěj Bierhanzl, Jaroslav Blaško, D. Behulova, Peter Podolec, Alexandra Hengerics Szabó
Publikováno v:
Journal of separation science. 41(2)
A simple method for the simultaneous derivatization of carbohydrates, polyols, amines and amino acids using hexamethyldisilazane and N,O-bis(trimethylsilyl)trifluoroacetamide was developed. This method allows the direct derivatization of urine sample
Autor:
A Stecova, M Plesko, I Waczulikova, A Kolenova, Emilia Kaiserova, J Suvada, M Vargova, D Behulova, A Vasilenkova, Miroslava Makohusová
Publikováno v:
Neoplasma. 63(5)
Bacterial infection is the most common complication in paediatric oncological patients during cancer treatment. A suitable tool for early prediction of unfavourable course of infection is still needed. We performed a prospective longitudinal observat
Autor:
Zuzana Pakanová, A. Salingova, Mária Matulová, Vladimír Pätoprstý, Anna Hlavatá, Jan Mucha, D. Behulova
Publikováno v:
Chemical Papers. 70
Pompe disease, glycosomal storage disorder type II, is caused by a deficiency of lysosomal exo-α- 1,4-glucosidase, which participates in glycogen degradation. Due to the wide variety of its clinical symptoms, this lysosomal storage disorder is diffi
Publikováno v:
Journal of Inherited Metabolic Disease. 40:749-750