11. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variantJaka Šikonja, Jernej Brecelj, Mojca Žerjav-Tanšek, Barbka Repič-Lampret, Ana Drole Torkar, Simona Klemenčič, Neža Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovač, Barbara Faganel Kotnik, Markéta Tesařová, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Urh Grošelj, 2022, original scientific article Keywords: tyrosinemia, fumarylacetoacetate hydrolase, nitisinone, dried blood spot, succinylacetone, intronic variant Full text (file, 1,10 MB) This document has more files! More... |
12. Detection of del/dup inside SHOX/PAR1 region in children and young adults with idiopathic short statureJera Stritar, Lana Stavber, Maja Ficko, Primož Kotnik, Tadej Battelino, Katarina Trebušak Podkrajšek, Tinka Hovnik, 2021, original scientific article Keywords: idiopathic short stature, Sanger sequencing, children and young adults, height, short stature, SHOX, MLPA Full text (file, 237,65 KB) This document has more files! More... |
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14. Towards a comprehensive strategy for the management of rare diseases in SloveniaDalibor Stanimirović, Eva Murko, Tadej Battelino, Urh Grošelj, Mojca Žerjav-Tanšek, 2021, original scientific article Keywords: rare diseases, patient treatment, ecosystemic approach, case study, Slovenia Full text (file, 1,28 MB) This document has more files! More... |
15. Altered taste function in young individuals with type 1 diabetesEulalia Catamo, Antonietta Robino, Davide Tinti, Klemen Dovč, Roberto Francesci, Manuela Giangreco, Paolo Gasparini, Egidio Barbi, Vittoria Cauvin, Tadej Battelino, 2022, original scientific article Keywords: taste function, type 1 diabetes, pediatric samples, age at onset, glycemic control Full text (file, 181,76 KB) This document has more files! More... |
16. Hybrid closed-loop systems for the treatment of type 1 diabetesAndrej Janež, Tadej Battelino, Tomasz Klupa Klupa, Győző Kocsis, Miriam Kuricová, Nebojsa M. Lalić, Anca Pantea Stoian, Martin Prázný, Dario Rahelić, Jan Šoupal, Tsvetalina Tankova, Nataliya Zelinska, 2021, original scientific article Keywords: hybrid closed loop, advanced hybrid closed-loop, type 1 diabetes, Central and Eastern Europe, position statement Full text (file, 929,80 KB) This document has more files! More... |
17. Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variantJasna Šuput Omladič, Maja Pajek, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj Stefanija, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger, 2021, original scientific article Keywords: familial non-autoimmune autosomal dominant hyperthyroidism, FNAH, TSHR, radioiodine ablation therapy, central hypothyroidism Full text (file, 785,05 KB) This document has more files! More... |
18. Association of glycemic control and cell stress with telomere attrition in type 1 diabetesTine Tesovnik, Jernej Kovač, Tinka Hovnik, Klemen Dovč, Nataša Bratina, Tadej Battelino, Katarina Trebušak Podkrajšek, 2018, short scientific article Keywords: hyperglycemia, abnormal blood glucose level, oxidative stress, type 1 diabetes Full text (file, 129,03 KB) This document has more files! More... |
19. Data highlighting effects of ketogenic diet on cardiomyopathy and hepatopathy in glycogen storage disease type IIIaTatiana Marusic, Mojca Žerjav-Tanšek, Andreja Širca-Čampa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Grošelj, 2020, original scientific article Keywords: inborn genetic diseases, glycogen storage disease, glycogen storage disease type III, hypertrophic cardiomyopathy, ketogenic diet Full text (file, 749,95 KB) This document has more files! More... |
20. Glycemic variability: the danger of a physiologically stable metricTadej Battelino, Klemen Dovč, 2020, short scientific article Keywords: diabetes, glycemic variability, chronic complications, mortality, time in range, continuous glucose monitoring, HbA1c, fasting blood glucose Full text (file, 130,37 KB) This document has more files! More... |