Groselj U - Search Results

1

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

Krasovec T, Sikonja J, Zerjav Tansek M, Debeljak M, Ilovar S, Trebusak Podkrajsek K, Bertok S, Tesovnik T, Kovac J, Suput Omladic J, Hartmann MF, Wudy SA, Avbelj Stefanija M, Battelino T, Kotnik P, Groselj U. Krasovec T, et al. Among authors: groselj u. Genes (Basel). 2022 Apr 20;13(5):717. doi: 10.3390/genes13050717. Genes (Basel). 2022. PMID: 35627102 Free PMC article.

2

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Groselj U, et al. Mol Genet Metab. 2012 Jun;106(2):142-8. doi: 10.1016/j.ymgme.2012.03.015. Epub 2012 Apr 1. Mol Genet Metab. 2012. PMID: 22513348

3

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: groselj u. 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

4

Decreased prevalence of hypercholesterolaemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies.

Sedej K, Kotnik P, Avbelj Stefanija M, Grošelj U, Širca Čampa A, Lusa L, Battelino T, Bratina N. Sedej K, et al. Among authors: groselj u. Eur J Endocrinol. 2014 Feb 1;170(2):293-300. doi: 10.1530/EJE-13-0566. Print 2014 Feb. Eur J Endocrinol. 2014. PMID: 24225029

5

Mutation analysis in mild hyperphenylalaninemia (HPA) patients - whom and what to screen?

Groselj U, Tansek MZ, Podkrajsek KT, Battelino T. Groselj U, et al. Clin Biochem. 2014 Feb;47(3):236. doi: 10.1016/j.clinbiochem.2013.11.004. Epub 2013 Nov 15. Clin Biochem. 2014. PMID: 24246852 No abstract available.

6

Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?

Groselj U, Tansek MZ, Battelino T. Groselj U, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):8-10. doi: 10.1016/j.ymgme.2014.07.019. Epub 2014 Jul 25. Mol Genet Metab. 2014. PMID: 25174964

7

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

8

Universal Screening for Familial Hypercholesterolemia in Children.

Klančar G, Grošelj U, Kovač J, Bratanič N, Bratina N, Trebušak Podkrajšek K, Battelino T. Klančar G, et al. Among authors: groselj u. J Am Coll Cardiol. 2015 Sep 15;66(11):1250-1257. doi: 10.1016/j.jacc.2015.07.017. J Am Coll Cardiol. 2015. PMID: 26361156 Free article.

9

Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

Grošelj U, Žerjav Tanšek M, Trebušak Podkrajšek K, Hovnik T, Battelino T, Vita D. Grošelj U, et al. Acta Chim Slov. 2016;63(1):33-7. doi: 10.17344/acsi.2015.1797. Acta Chim Slov. 2016. PMID: 26970786

10

Newborn Screening in Slovenia.

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: groselj u. 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.

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