Repič Lampr Et B - Search Results

1

Šmon A, Grošelj U, Žerjav Tanšek M, Biček A, Oblak A, Zupančič M, Kržišnik C, Repič Lampr Et B, Murko S, Hojker S, Battelino T. Šmon A, et al. Among authors: repic lampr et b. Zdr Varst. 2015 Mar 13;54(2):86-90. doi: 10.1515/sjph-2015-0013. eCollection 2015 Jun. Zdr Varst. 2015. PMID: 27646913 Free PMC article.

2

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

Kosem R, Debeljak M, Repič Lampret B, Kansky A, Battelino T, Trebušak Podkrajšek K. Kosem R, et al. Dermatology. 2012;225(3):193-203. doi: 10.1159/000342509. Epub 2012 Oct 27. Dermatology. 2012. PMID: 23108224

3

Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring--implications for clinical management of patients with hyperphenylalaninemia.

Groselj U, Murko S, Zerjav Tansek M, Kovac J, Trampus Bakija A, Repic Lampret B, Battelino T. Groselj U, et al. Clin Biochem. 2015 Jan;48(1-2):14-8. doi: 10.1016/j.clinbiochem.2014.09.014. Epub 2014 Sep 28. Clin Biochem. 2015. PMID: 25261586

4

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Smon A, Repic Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, Bertok S, Battelino T, Trebusak Podkrajsek K. Smon A, et al. Clin Biochem. 2018 Feb;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016. Epub 2017 Oct 27. Clin Biochem. 2018. PMID: 29111448

5

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

Smon A, Groselj U, Debeljak M, Zerjav Tansek M, Bertok S, Avbelj Stefanija M, Trebusak Podkrajsek K, Battelino T, Repic Lampret B. Smon A, et al. J Int Med Res. 2018 Apr;46(4):1339-1348. doi: 10.1177/0300060517734123. Epub 2018 Jan 19. J Int Med Res. 2018. PMID: 29350094 Free PMC article.

6

Comparison of liquid chromatography with tandem mass spectrometry and ion-exchange chromatography by post-column ninhydrin derivatization for amino acid monitoring.

Smon A, Cuk V, Brecelj J, Murko S, Groselj U, Zerjav Tansek M, Battelino T, Repic Lampret B. Smon A, et al. Clin Chim Acta. 2019 Aug;495:446-450. doi: 10.1016/j.cca.2019.05.007. Epub 2019 May 8. Clin Chim Acta. 2019. PMID: 31077651

7

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation.

Bizjak N, Zerjav Tansek M, Avbelj Stefanija M, Repic Lampret B, Mezek A, Drole Torkar A, Battelino T, Groselj U. Bizjak N, et al. Mol Genet Metab Rep. 2020 Dec 2;25:100691. doi: 10.1016/j.ymgmr.2020.100691. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33304818 Free PMC article.

8

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Remec ZI, Groselj U, Drole Torkar A, Zerjav Tansek M, Cuk V, Perko D, Ulaga B, Lipovec N, Debeljak M, Kovac J, Battelino T, Repic Lampret B. Remec ZI, et al. Front Genet. 2021 Apr 27;12:648493. doi: 10.3389/fgene.2021.648493. eCollection 2021. Front Genet. 2021. PMID: 33986768 Free PMC article.

9

Current Status of Newborn Screening in Southeastern Europe.

Koracin V, Mlinaric M, Baric I, Brincat I, Djordjevic M, Drole Torkar A, Fumic K, Kocova M, Milenkovic T, Moldovanu F, Mulliqi Kotori V, Nanu MI, Remec ZI, Repic Lampret B, Platis D, Savov A, Samardzic M, Suzic B, Szatmari I, Toromanovic A, Zerjav Tansek M, Battelino T, Groselj U. Koracin V, et al. Front Pediatr. 2021 May 7;9:648939. doi: 10.3389/fped.2021.648939. eCollection 2021. Front Pediatr. 2021. PMID: 34026686 Free PMC article.

10

Next-Generation Sequencing in Newborn Screening: A Review of Current State.

Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, Battelino T, Debeljak M. Remec ZI, et al. Front Genet. 2021 May 26;12:662254. doi: 10.3389/fgene.2021.662254. eCollection 2021. Front Genet. 2021. PMID: 34122514 Free PMC article. Review.

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