Groselj U - Search Results

1

Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.

Perko D, Groselj U, Cuk V, Iztok Remec Z, Zerjav Tansek M, Drole Torkar A, Krhin B, Bicek A, Oblak A, Battelino T, Repic Lampret B. Perko D, et al. Among authors: groselj u. Int J Mol Sci. 2023 Jan 27;24(3):2487. doi: 10.3390/ijms24032487. Int J Mol Sci. 2023. PMID: 36768810 Free PMC article.

2

How health care professionals confront and solve ethical dilemmas - a tale of two countries: Slovenia and Croatia.

Grosek Š, Kučan R, Grošelj J, Oražem M, Grošelj U, Erčulj V, Lajovic J, Ivanc B, Novak M, Prpić Massari L, Mimica Matanović S, Čerfalvi V, Meštrović J, Borovečki A. Grosek Š, et al. Among authors: groselj u, groselj j. Croat Med J. 2021 Apr 30;62(2):120-129. doi: 10.3325/cmj.2021.62.120. Croat Med J. 2021. PMID: 33938651 Free PMC article.

3

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.

Heard JM, Vrinten C, Schlander M, Bellettato CM, van Lingen C, Scarpa M; MetabERN collaboration group. Heard JM, et al. Orphanet J Rare Dis. 2020 Jan 6;15(1):3. doi: 10.1186/s13023-019-1280-5. Orphanet J Rare Dis. 2020. PMID: 31907071 Free PMC article.

4

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

5

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

6

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.

7

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

8

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.

9

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

10

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. 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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