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Data in Brief|February 24, 2022
Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemiaBarbka Repic Lampret, Mojca Zerjav Tansek, Blaz Groselj, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 25, 2016
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratiosMojca Zerjav Tansek, Urh Groselj, Matic Kelvisar, et al.
Molecular Genetics and Metabolism|August 25, 2012
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency populationMojca Zerjav Tansek, Urh Groselj, Simona Murko, et al.
Biochemia Medica|June 26, 2015
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)Barbka Repic Lampret, Simona Murko, Marusa Debeljak, et al.
Clinical Biochemistry|September 28, 2014
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemiaUrh Groselj, Simona Murko, Mojca Zerjav Tansek, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 12, 2019
Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoringAndraz Smon, Vanja Cuk, Jernej Brecelj, et al.
Frontiers in Genetics|June 14, 2021
Next-Generation Sequencing in Newborn Screening: A Review of Current StateZiga I Remec, Katarina Trebusak Podkrajsek, Barbka Repic Lampret, et al.
Molecular Genetics and Metabolism Reports|December 11, 2020
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutationNeli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, et al.
Clinical Biochemistry|November 8, 2017
Next generation sequencing as a follow-up test in an expanded newborn screening programmeAndraz Smon, Barbka Repic Lampret, Urh Groselj, et al.
The Journal of International Medical Research|January 20, 2018
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screeningAndraz Smon, Urh Groselj, Marusa Debeljak, et al.
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