Debeljak M - Search Results

1

Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.

Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C. Kotnik P, et al. Among authors: debeljak m. J Pediatr Endocrinol Metab. 2007 Apr;20(4):483-9. doi: 10.1515/jpem.2007.20.4.483. J Pediatr Endocrinol Metab. 2007. PMID: 17550212

2

Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.

Rojnik T, Sedlar N, Turk N, Kastrin A, Debeljak M, Božič Mijovski M. Rojnik T, et al. Among authors: debeljak m. Sci Rep. 2023 Oct 4;13(1):16734. doi: 10.1038/s41598-023-43941-x. Sci Rep. 2023. PMID: 37794095 Free PMC article.

3

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.

Debeljak M, Podkrajsek KT, Aplenc R, Jazbec J. Debeljak M, et al. Pediatr Blood Cancer. 2008 Jan;50(1):187. doi: 10.1002/pbc.21216. Pediatr Blood Cancer. 2008. PMID: 17455312 No abstract available.

4

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T. Avbelj M, et al. Among authors: debeljak m. Eur J Endocrinol. 2007 May;156(5):511-9. doi: 10.1530/EJE-07-0037. Eur J Endocrinol. 2007. PMID: 17468186

5

Lack of association of common allelic variants in the thyroglobulin gene with Hashimoto's thyroiditis in young subjects with type 1 diabetes.

Kotnik P, Debeljak M, Avbelj M, Hovnik T, Ursic Bratina N, Krzisnik C, Battelino T. Kotnik P, et al. Among authors: debeljak m. Horm Res Paediatr. 2010;73(4):244-7. doi: 10.1159/000284388. Epub 2010 Mar 9. Horm Res Paediatr. 2010. PMID: 20215770

6

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. Among authors: debeljak m. Dermatology. 2012;225(3):193-203. doi: 10.1159/000342509. Epub 2012 Oct 27. Dermatology. 2012. PMID: 23108224

7

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Lampret BR, Murko S, Debeljak M, Tansek MZ, Fister P, Battelino T. Lampret BR, et al. Among authors: debeljak m. Biochem Med (Zagreb). 2015 Jun 5;25(2):279-84. doi: 10.11613/BM.2015.029. eCollection 2015. Biochem Med (Zagreb). 2015. PMID: 26110041 Free PMC article.

8

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.

Lampret BR, Murko S, Tanšek MŽ, Podkrajšek KT, Debeljak M, Šmon A, Battelino T. Lampret BR, et al. Among authors: debeljak m. J Med Biochem. 2015 Jan;34(1):58-63. doi: 10.2478/jomb-2014-0056. Epub 2014 Oct 8. J Med Biochem. 2015. PMID: 28356825 Free PMC article.

9

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. Among authors: debeljak m. 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.

10

The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: a case report.

Plemeniti Tololeski B, Debeljak M, Perkovič Benedik M, Rigler T, Kyriakopoulos M, Kotnik P, Šurlan Popovič K, Drobnič Radobuljac M. Plemeniti Tololeski B, et al. Among authors: debeljak m. BMC Psychiatry. 2019 Feb 11;19(1):67. doi: 10.1186/s12888-019-2047-1. BMC Psychiatry. 2019. PMID: 30744594 Free PMC article.

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