Metabolomics toward personalized medicine

M Jacob, AL Lopata, M Dasouki… - Mass spectrometry …, 2019 - Wiley Online Library
Metabolomics, which is the metabolites profiling in biological matrices, is a key tool for
biomarker discovery and personalized medicine and has great potential to elucidate the …

[HTML][HTML] Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

KLM Coene, LAJ Kluijtmans, E van der Heeft… - Journal of inherited …, 2018 - Springer
The implementation of whole-exome sequencing in clinical diagnostics has generated a
need for functional evaluation of genetic variants. In the field of inborn errors of metabolism …

A short review of applications of liquid chromatography mass spectrometry based metabolomics techniques to the analysis of human urine

T Zhang, DG Watson - Analyst, 2015 - pubs.rsc.org
The applications of metabolomics as a methodology for providing better treatment and
understanding human disease continue to expand rapidly. In this review, covering the last …

[HTML][HTML] Direct infusion based metabolomics identifies metabolic disease in patients' dried blood spots and plasma

HA Haijes, M Willemsen, M Van der Ham, J Gerrits… - Metabolites, 2019 - mdpi.com
In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a
complete view of metabolite status. Here, we describe a non-quantitative direct-infusion high …

Metabolome‐based genome‐wide association study of duck meat leads to novel genetic and biochemical insights

D Liu, H Zhang, Y Yang, T Liu, Z Guo, W Fan… - Advanced …, 2023 - Wiley Online Library
Meat is among the most consumed foods worldwide and has a unique flavor and high
nutrient density in the human diet. However, the genetic and biochemical bases of meat …

Hereditary xanthinuria is not so rare disorder of purine metabolism

I Sebesta, B Stiburkova, J Krijt - Nucleosides, Nucleotides and …, 2018 - Taylor & Francis
Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine
oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood …

Modern diagnostic approach to hereditary xanthinuria

M Mraz, O Hurba, J Bartl, Z Dolezel, A Marinaki… - Urolithiasis, 2015 - Springer
Hereditary xanthinuria (HX) is a rare inherited disorder caused by a deficiency of xanthine
dehydrogenase/oxidase (XDH/XO). Missing XDH/XO activity leads to undetectable levels of …

[HTML][HTML] A rough guide to metabolite identification using high resolution liquid chromatography mass spectrometry in metabolomic profiling in metazoans

DG Watson - Computational and structural biotechnology journal, 2013 - Elsevier
Compound identification in mass spectrometry based metabolomics can be a problem but
sometimes the problem seems to be presented in an over complicated way. The current …

Aldehyde oxidase; new approaches to old problems

C Beedham - Xenobiotica, 2020 - Taylor & Francis
Full article: Aldehyde oxidase; new approaches to old problems Skip to Main Content Taylor
and Francis Online homepage Browse Search Publish Login | Register Log in or Register …

[HTML][HTML] The biochemical pathways of nicotinamide-derived pyridones

F Hayat, M Sonavane, MV Makarov… - International journal of …, 2021 - mdpi.com
As catabolites of nicotinamide possess physiological relevance, pyridones are often
included in metabolomics measurements and associated with pathological outcomes in …