Barbka R. Lampret
Ljubljana, Slovenia
Last Updated: 09/26/2026
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Found 10 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
International Survey on Phenylketonuria Newborn Screening.
Journal: International journal of neonatal screening
Published: January 30, 2025
Newborn Screening in a Pandemic-Lessons Learned.
Journal: International journal of neonatal screening
Published: February 27, 2023
Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemia.
Journal: Data in brief
Published: November 29, 2021
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Journal: Zdravstveno varstvo
Published: April 17, 2020
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 21, 2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Journal: Biochemia medica
Published: October 15, 2014
Newborn screening in southeastern Europe.
Journal: Molecular genetics and metabolism
Published: July 16, 2014
Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.
Journal: Journal of medical biochemistry
Published: April 15, 2014
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Journal: Molecular genetics and metabolism
Published: June 02, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026