Drafting a blueprint for the design of a rare disease ecosystem in Slovenia: Identifying salient opportunities and outlining policy recommendations

por Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca
Publicado 2021

Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach

por Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca
Publicado 2021

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa

por Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, Groselj, Urh
Publicado 2020

Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia

por Zerjav Tansek, Mojca, Bertoncel, Ana, Sebez, Brina, Zibert, Janez, Groselj, Urh, Battelino, Tadej, Avbelj Stefanija, Magdalena
Publicado 2020

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA

por Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, Groselj, Urh
Publicado 2020

Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene

por Pajek, Maja, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Zerjav Tansek, Mojca, Battelino, Tadej, Groselj, Urh
Publicado 2020

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation

por Bizjak, Neli, Zerjav Tansek, Mojca, Avbelj Stefanija, Magdalena, Repic Lampret, Barbka, Mezek, Ajda, Drole Torkar, Ana, Battelino, Tadej, Groselj, Urh
Publicado 2020

Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

por BERTOK, Sara, ŽERJAV TANŠEK, Mojca, KOTNIK, Primož, BATTELINO, Tadej, VOLK, Marija, PECILE, Vanna, CLEVA, Lisa, GASPARINI, Paolo, KOVAČ, Jernej, HOVNIK, Tinka
Publicado 2015

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

por Smon, Andraz, Groselj, Urh, Debeljak, Marusa, Zerjav Tansek, Mojca, Bertok, Sara, Avbelj Stefanija, Magdalena, Trebusak Podkrajsek, Katarina, Battelino, Tadej, Repic Lampret, Barbka
Publicado 2018

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

por Suput Omladic, Jasna, Pajek, Maja, Groselj, Urh, Trebusak Podkrajsek, Katarina, Avbelj Stefanija, Magdalena, Zerjav Tansek, Mojca, Kotnik, Primoz, Battelino, Tadej, Smigoc Schweiger, Darja
Publicado 2021

Two Cases With an Early Presented Proopiomelanocortin Deficiency—A Long-Term Follow-Up and Systematic Literature Review

por Gregoric, Nadan, Groselj, Urh, Bratina, Natasa, Debeljak, Marusa, Zerjav Tansek, Mojca, Suput Omladic, Jasna, Kovac, Jernej, Battelino, Tadej, Kotnik, Primoz, Avbelj Stefanija, Magdalena
Publicado 2021

Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature rev...

por Molk, Neza, Bitenc, Mojca, Urlep, Darja, Zerjav Tansek, Mojca, Bertok, Sara, Trebusak Podkrajsek, Katarina, Sustar, Ursa, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa, Groselj, Urh
Publicado 2023

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

por Perko, Dasa, Repic Lampret, Barbka, Remec, Ziga Iztok, Zerjav Tansek, Mojca, Drole Torkar, Ana, Krhin, Blaz, Bicek, Ajda, Oblak, Adrijana, Battelino, Tadej, Groselj, Urh
Publicado 2022

Newborn Screening in Slovenia

por ŠMON, Andraž, GROŠELJ, Urh, ŽERJAV TANŠEK, Mojca, BIČEK, Ajda, OBLAK, Adrijana, ZUPANČIČ, Mirjana, KRŽIŠNIK, Ciril, REPIČ LAMPR ET, Barbka, MURKO, Simona, HOJKER, Sergej, BATTELINO, Tadej
Publicado 2015

Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phen...

por 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
Publicado 2023

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series

por Zerjav Tansek, Mojca, Kodric, Jana, Klemencic, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Doric, Maja, Koren, Alenka, Avcin, Simona, Battelino, Tadej, Groselj, Urh
Publicado 2021

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

por 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
Publicado 2021

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxyla...

por Saho, Robert, Dolzan, Vita, Zerjav Tansek, Mojca, Pastorakova, Andrea, Petrovic, Robert, Knapkova, Maria, Trebusak Podkrajsek, Katarina, Suput Omladic, Jasna, Bertok, Sara, Avbelj Stefanija, Magdalena, Kotnik, Primoz, Battelino, Tadej, Pribilincova, Zuzana, Groselj, Urh
Publicado 2023

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

por Štajer, Katarina, Kovač, Neja, Šikonja, Jaka, Mlinarič, Matej, Bertok, Sara, Brecelj, Jernej, Debeljak, Maruša, Kovač, Jernej, Markelj, Gašper, Neubauer, David, Rus, Rina, Žerjav Tanšek, Mojca, Drole Torkar, Ana, Zver, Aleksandra, Battelino, Tadej, Jiménez Torres, Rosa, Grošelj, Urh
Publicado 2023

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

por Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh
Publicado 2021