Groselj U - Search Results

1

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.

Molk N, Bitenc M, Urlep D, Zerjav Tansek M, Bertok S, Trebusak Podkrajsek K, Sustar U, Kovac J, Battelino T, Debeljak M, Groselj U. Molk N, et al. Among authors: groselj u. Front Med (Lausanne). 2023 Jun 13;10:1106441. doi: 10.3389/fmed.2023.1106441. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37384046 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

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

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Zerjav Tansek M, et al. Among authors: groselj u. Orphanet J Rare Dis. 2015 May 30;10:68. doi: 10.1186/s13023-015-0283-0. Orphanet J Rare Dis. 2015. PMID: 26025111 Free PMC article.

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