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Newborn Screening in a Pandemic-Lessons Learned.
Int J Neonatal Screen. 2023 Apr 11;9(2):21. doi: 10.3390/ijns9020021.
Int J Neonatal Screen. 2023.
PMID: 37092515
Free PMC article.
Review.
Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.
Lampret BR, Remec ŽI, Torkar AD, Tanšek MŽ, Šmon A, Koračin V, Čuk V, Perko D, Ulaga B, Jelovšek AM, Debeljak M, Kovač J, Battelino T, Grošelj U.
Lampret BR, et al.
Zdr Varst. 2020 Oct 18;59(4):256-263. doi: 10.2478/sjph-2020-0032. eCollection 2020 Dec.
Zdr Varst. 2020.
PMID: 33133282
Free PMC article.
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Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Tansek MZ, Groselj U, Murko S, Kobe H, Lampret BR, Battelino T.
Tansek MZ, et al. Among authors: lampret br.
Mol Genet Metab. 2012 Sep;107(1-2):37-42. doi: 10.1016/j.ymgme.2012.07.010. Epub 2012 Jul 20.
Mol Genet Metab. 2012.
PMID: 22917871
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Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemia.
Lampret BR, Tansek MZ, Groselj B, Sikonja J, Battelino T, Groselj U.
Lampret BR, et al.
Data Brief. 2022 Feb 4;41:107926. doi: 10.1016/j.dib.2022.107926. eCollection 2022 Apr.
Data Brief. 2022.
PMID: 35198697
Free PMC article.
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Newborn screening in southeastern Europe.
Groselj U, Tansek MZ, Smon A, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori VM, Maksic H, Marginean O, Margineanu O, Milijanovic O, Moldovanu F, Muresan M, Murko S, Nanu M, Lampret BR, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T.
Groselj U, et al. Among authors: lampret br.
Mol Genet Metab. 2014 Sep-Oct;113(1-2):42-5. doi: 10.1016/j.ymgme.2014.07.020. Epub 2014 Aug 1.
Mol Genet Metab. 2014.
PMID: 25174966
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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.
Lampret BR, Murko S, Tanšek MŽ, Podkrajšek KT, Debeljak M, Šmon A, Battelino T.
Lampret BR, et al.
J Med Biochem. 2015 Jan;34(1):58-63. doi: 10.2478/jomb-2014-0056. Epub 2014 Oct 8.
J Med Biochem. 2015.
PMID: 28356825
Free PMC article.
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A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
Lampret BR, Murko S, Debeljak M, Tansek MZ, Fister P, Battelino T.
Lampret BR, et al.
Biochem Med (Zagreb). 2015 Jun 5;25(2):279-84. doi: 10.11613/BM.2015.029. eCollection 2015.
Biochem Med (Zagreb). 2015.
PMID: 26110041
Free PMC article.
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Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios.
Tansek MZ, Groselj U, Kelvisar M, Kobe H, Lampret BR, Battelino T.
Tansek MZ, et al. Among authors: lampret br.
J Pediatr Endocrinol Metab. 2016 May 1;29(5):561-6. doi: 10.1515/jpem-2015-0337.
J Pediatr Endocrinol Metab. 2016.
PMID: 26910740
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