Works by Drole Torkar, Ana

Results: 10

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
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
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
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
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
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
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
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
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
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