Works by Drole Torkar, Ana

Results: 13

Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03828-8

By:

Grošelj, Urh;
Kavčič, Marko;
Drole Torkar, Ana;
Kafol, Jan;
Lainšček, Duško;
Jerala, Roman;
Sever, Matjaž;
Zver, Samo;
Serša, Gregor;
Čemažar, Maja;
Strojan, Primož;
Grošelj, Aleš;
Žerjav Tanšek, Mojca;
Miroševič, Špela;
Ivančan, Simona;
Prelog, Tomaž;
Gosar, David;
Oražem Mrak, Jasna;
Mlinarič, Matej;
Bertok, Sara

Publication type:

Article

International Survey on Phenylketonuria Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 18, doi. 10.3390/ijns11010018

By:

Trampuž, Domen;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Scarpa, Maurizio;
Feillet, François;
Kožich, Viktor;
Tangeraas, Trine;
Drole Torkar, Ana;
Mlinarič, Matej;
Perko, Daša;
Remec, Žiga Iztok;
Lampret, Barbka Repič;
Battelino, Tadej;
van Spronsen, Francjan J.;
Bonham, James R.;
Grošelj, Urh

Publication type:

Article

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 9, doi. 10.3390/ijns11010009

By:

Drole Torkar, Ana;
Klinc, Ana;
Remec, Ziga Iztok;
Rankovic, Branislava;
Bartolj, Klara;
Bertok, Sara;
Colja, Sara;
Cuk, Vanja;
Debeljak, Marusa;
Kozjek, Eva;
Repic Lampret, Barbka;
Mlinaric, Matej;
Mohar Hajnsek, Tinka;
Perko, Daša;
Stajer, Katarina;
Tesovnik, Tine;
Trampuz, Domen;
Ulaga, Blanka;
Kovac, Jernej;
Battelino, Tadej

Publication type:

Article

Newborn Screening in a Pandemic—Lessons Learned.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 21, doi. 10.3390/ijns9020021

By:

Mlinaric, Matej;
Bonham, James R.;
Kožich, Viktor;
Kölker, Stefan;
Majek, Ondrej;
Battelino, Tadej;
Torkar, Ana Drole;
Koracin, Vanesa;
Perko, Dasa;
Remec, Ziga Iztok;
Lampret, Barbka Repic;
Scarpa, Maurizio;
Schielen, Peter C. J. I.;
Zetterström, Rolf H.;
Groselj, Urh

Publication type:

Article

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.581134

By:

Drole Torkar, Ana;
Avbelj Stefanija, Magdalena;
Bertok, Sara;
Trebušak Podkrajšek, Katarina;
Debeljak, Maruša;
Stirn Kranjc, Branislava;
Battelino, Tadej;
Kotnik, Primož

Publication type:

Article

The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report.

Published in:

Genes, 2025, v. 16, n. 2, p. 110, doi. 10.3390/genes16020110

By:

Gorjanc, Tevž;
Šikonja, Jaka;
Drole Torkar, Ana;
Žerjav Tanšek, Mojca;
Kovač, Jernej;
Bertok, Sara;
Debeljak, Maruša;
Dolenc-Stražar, Zvezdana;
Meznarič, Marija;
Mlakar, Jernej;
Topalović, Mirko;
Mlakar, Gorazd;
Battelino, Tadej;
Grošelj, Urh

Publication type:

Article

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.

Published in:

Genes, 2022, v. 13, n. 3, p. 517, doi. 10.3390/genes13030517

By:

Perko, Dasa;
Repic Lampret, Barbka;
Remec, Ziga Iztok;
Zerjav Tansek, Mojca;
Drole Torkar, Ana;
Krhin, Blaz;
Bicek, Ajda;
Oblak, Adrijana;
Battelino, Tadej;
Groselj, Urh

Publication type:

Article

Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936121

By:

Sustar, Ursa;
Groselj, Urh;
Podkrajsek, Katarina Trebusak;
Mlinaric, Matej;
Kovac, Jernej;
Thaler, Martin;
Torkar, Ana Drole;
Skarlovnik, Ajda;
Battelino, Tadej;
Hovnik, Tinka

Publication type:

Article

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.648493

By:

Remec, Ziga I.;
Groselj, Urh;
Drole Torkar, Ana;
Zerjav Tansek, Mojca;
Cuk, Vanja;
Perko, Dasa;
Ulaga, Blanka;
Lipovec, Neza;
Debeljak, Marusa;
Kovac, Jernej;
Battelino, Tadej;
Repic Lampret, Barbka

Publication type:

Article

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

Published in:

2022

By:

Kavčič, Alja;
Homan, Matjaž;
Živanović, Milanka;
Debeljak, Maruša;
Butenko, Tita;
Torkar, Ana Drole;
Tanšek, Mojca Žerjav;
Bertok, Sara;
Battelino, Tadej;
Groselj, Urh

Publication type:

Case Study

Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.

Published in:

Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1365700

By:

Klinc, Ana;
Groselj, Urh;
Mlinaric, Matej;
Homan, Matjaz;
Markelj, Gasper;
Novak, Ajda Mezek;
Campa, Andreja Sirca;
Sikonja, Jaka;
Battelino, Tadej;
Tansek, Mojca Zerjav;
Torkar, Ana Drole

Publication type:

Article

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.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2487, doi. 10.3390/ijms24032487

By:

Perko, Dasa;
Groselj, Urh;
Cuk, Vanja;
Iztok Remec, Ziga;
Zerjav Tansek, Mojca;
Drole Torkar, Ana;
Krhin, Blaz;
Bicek, Ajda;
Oblak, Adrijana;
Battelino, Tadej;
Repic Lampret, Barbka

Publication type:

Article

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2

By:

Kafol, Jan;
Gnidovec Strazisar, Barbara;
Drole Torkar, Ana;
Homan, Matjaz;
Bertok, Sara;
Mlinaric, Matej;
Sikonja, Jaka;
Kovač, Jernej;
Perkovic Benedik, Mirjana;
Kersnik Levart, Tanja;
Zerjav Tansek, Mojca;
Praprotnik, Marina;
Battelino, Tadej;
Debeljak, Maruša;
Groselj, Urh

Publication type:

Article