1. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome)Mojca Žerjav-Tanšek, Jana Kodrič, Simona Klemenčič, Jaap Jan Boelens, Peter M. van Hasselt, Ana Drole Torkar, Maja Dorič, Alenka Koren, Simona Avčin, Tadej Battelino, Urh Grošelj, 2021, review article Keywords: MPS, mucopolysaccharidosis type II, Hunter syndrome, hematopoietic stem cell transplantation, HSCT, enzyme replacement therapy
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2. Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) geneMaja Pajek, Magdalena Avbelj Stefanija, Katarina Trebušak Podkrajšek, Jasna Šuput Omladič, Mojca Žerjav-Tanšek, Tadej Battelino, Urh Grošelj, 2020, original scientific article Keywords: thyroid, resistance to thyroid hormones, RTHβ, thyroid hormone receptor, THRB, hypothyroidism, hypercholesterolemia
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3. 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
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4. 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
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5. 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
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6. Prader-Willijev sindrom: izkušnje staršev z oporo zdravstvenih delavcev v obdobju dojenčkaMonika Ošlak, 2021, undergraduate thesis Keywords: diplomska dela, babištvo, zdravstvena nega, babice, informacije, odnosi, stiki
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8. 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
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9. Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutationNeli Bizjak, Mojca Žerjav-Tanšek, Magdalena Avbelj Stefanija, Barbka Repič-Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Grošelj, 2020, short scientific article Keywords: 3-MGA-I, 3-methylglutaconic aciduria type 1, precocious puberty, AUH gene, GnRH agonist, triptorelin
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