Groselj U - Search Results

1

Osilodrostat for Cushing Disease and Its Role in Pediatrics.

Groselj U, Sikonja J, Battelino T. Groselj U, et al. Horm Res Paediatr. 2023;96(6):573-580. doi: 10.1159/000522054. Epub 2022 Jan 19. Horm Res Paediatr. 2023. PMID: 35045421 Free article. Review.

2

Editorial: Rare dyslipidemias.

Sadiq F, Hegele RA, Catapano AL, Groselj U. Sadiq F, et al. Among authors: groselj u. Front Genet. 2023 Jul 17;14:1248435. doi: 10.3389/fgene.2023.1248435. eCollection 2023. Front Genet. 2023. PMID: 37529775 Free PMC article. No abstract available.

3

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

4

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

5

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.

Groselj U, Tansek MZ, Podkrajsek KT, Battelino T. Groselj U, et al. J Inherit Metab Dis. 2013 Jan;36(1):157. doi: 10.1007/s10545-012-9562-2. Epub 2012 Nov 16. J Inherit Metab Dis. 2013. PMID: 23160875 No abstract available.

6

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

7

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.

8

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

9

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

10

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.

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