Karolina Peskova
Prague, PR, Czech Republic
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.
Journal: Molecular genetics and metabolism reports
Published: October 09, 2025
Pilot study of screening method for pancreatic cancer using lipidomic profiling of plasma or serum.
Journal: Communications medicine
Published: July 29, 2025
Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: February 25, 2025
Robust and high-throughput lipidomic quantitation of human blood samples using flow injection analysis with tandem mass spectrometry for clinical use.
Journal: Analytical and bioanalytical chemistry
Published: September 19, 2022
Factors Influencing Parental Awareness about Newborn Screening.
Journal: International journal of neonatal screening
Published: August 26, 2019
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Journal: Central European journal of public health
Published: June 28, 2018
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Journal: Folia biologica
Published: May 18, 2016
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 26, 2014
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Journal: Clinical genetics
Published: October 09, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026