Last Updated: 09/26/2026
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Found 8 publications
Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review.
Journal: Molecular genetics and metabolism reports
Published: November 01, 2025
Telomere Length, Oxidative Stress, and Kidney Damage Biomarkers in Fabry Nephropathy.
Journal: Cells
Published: January 09, 2025
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.
Journal: International journal of neonatal screening
Published: November 05, 2024
Effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers in healthy 5-6-year-old children: a randomized controlled trial.
Journal: European journal of pediatrics
Published: December 22, 2023
Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
Journal: International journal of molecular sciences
Published: December 08, 2022
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
Journal: Frontiers in genetics
Published: December 31, 2020
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Journal: Zdravstveno varstvo
Published: April 17, 2020
Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoring.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 25, 2019
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Last Updated: 09/26/2026