A5021617645- Metabolomics and Mass Spectrometry Studies
- Metabolism and Genetic Disorders
- Geochemistry and Geologic Mapping
- Spectroscopy and Chemometric Analyses
- Biochemical and Molecular Research
- Diet and metabolism studies
- Advanced Chemical Sensor Technologies
- Mitochondrial Function and Pathology
- Forest Ecology and Biodiversity Studies
- Analytical Chemistry and Chromatography
- Archaeological and Historical Studies
- Fungal Biology and Applications
- Ancient and Medieval Archaeology Studies
- Mycorrhizal Fungi and Plant Interactions
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Remote-Sensing Image Classification
- Ancient Mediterranean Archaeology and History
Palacký University Olomouc
2019-2024
University Hospital Olomouc
2019-2023
Institute of Molecular and Translational Medicine
2019-2023
Comité Champagne
2022-2023
Abstract 3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating decompensations and thus would benefit newborn screening (NBS). The diagnosis currently made by measuring dry blood spot acylcarnitines (C5OH C6DC) followed urinary organic acid profiling for the differential several other disorders. Using untargeted metabolomics (reversed‐phase UHPLC coupled to an...
Untargeted liquid chromatography-high-resolution mass spectrometry analysis produces a large number of features which correspond to the potential compounds in sample that is analyzed. During data processing, it necessary merge associated with one compound prevent multiplicities and possible misidentification. The processing tools are currently employed use complex algorithms detect abundances, such as adducts or isotopes. However, most them not able deal unpredictable in-source fragments. We...
A data table arranged according to two factors can often be considered a compositional table. An example is the number of unemployed people, split gender and age classes. Analyzed as compositions, relevant information consists ratios between different cells such This particularly useful when analyzing several tables jointly, where absolute numbers are in very ranges, e.g. if unemployment from countries. Within framework logratio methodology, decomposed into independent interactive parts,...
Three genetically determined enzyme defects of purine de novo synthesis (PDNS) have been identified so far in humans: adenylosuccinate lyase (ADSL) deficiency, 5-amino-4-imidazole carboxamide-ribosiduria (AICA-ribosiduria), and deficiency bifunctional phosphoribosylaminoimidazole carboxylase phosphoribosylaminoimidazolesuccinocarboxamide synthase (PAICS). Clinical signs these are mainly neurological, such as seizures, psychomotor retardation, epilepsy, autistic features, etc. This work aims...
Newborn screening (NBS) of inborn errors metabolism (IEMs) is based on the reference ranges established a healthy newborn population using quantile statistics molar concentrations biomarkers and their ratios. The aim this paper to investigate whether multivariate independent component analysis (ICA) useful tool for NBS data, also address structure calculated ICA scores. data were obtained from routine program performed between 2013 2022. was tested 10,213/150 free-diseased controls 77/20...
Data resulting from high‐throughput biological experiments are frequently of relative nature. This implies that the most relevant information is on shape data distribution over features more than size measurements themselves. One well‐established way to acknowledge this in statistical processing through logratio analysis. In current work, we introduce selective pivot coordinates as a new type orthonormal coordinate representation for high‐dimensional (a.k.a. compositional) data. proposal...