Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Katarina Trebusak"'
Autor:
Lea Regoršek Vrabec, Tina Leban, Katarina Trebušak Podkrajšek, Nataša Bratina, Sara Bertok, Alenka Pavlič, Magdalena Avbelj Stefanija
Publikováno v:
Slovenska pediatrija, Vol 27, Iss 1, Pp 9-14 (2020)
Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare monogenic disor- der caused by pathological genetic alterations in the AIRE gene, which encodes a protein autoimmune regulator, which is implicated in the regu
Externí odkaz:
https://doaj.org/article/56cb28d9be8245bc84c990d26ec3f848
Autor:
Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Sikonja, Fouzia Sadiq, Ursa Sustar, Matej Mlinaric, Jernej Kovac, Hijab Batool, Mohammad Iqbal Khan, Katarina Trebusak Podkrajsek, Barbara Jenko Bizjan, Tadej Battelino, Zlatko Fras, Muhammad Ajmal, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionHypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of sympt
Externí odkaz:
https://doaj.org/article/b399954a4ca849db8f00ebfa5014f148
Autor:
Neza Molk, Mojca Bitenc, Darja Urlep, Mojca Zerjav Tansek, Sara Bertok, Katarina Trebusak Podkrajsek, Ursa Sustar, Jernej Kovac, Tadej Battelino, Marusa Debeljak, Urh Groselj
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundFamilial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the APOB gene that frequently interferes with protein length. Clinical manifestations include malabsorption, non-alcoholic fatty li
Externí odkaz:
https://doaj.org/article/49789fd99f0d4602acc7085a64391e5a
Autor:
Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slo
Externí odkaz:
https://doaj.org/article/bdd447f54e584782960d2e7d0280fe60
Autor:
Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino, Tinka Hovnik
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive lysosomal storage disorder, caused by homozygous or compound heterozygous pathogenic variants in the LIPA gene. Clinically, LAL-D is under- and misdiagnosed, due to similar clinical a
Externí odkaz:
https://doaj.org/article/c20ca39bf7dd4228aeefbb417a684df6
Autor:
Anamarija Meglic, Marusa Debeljak, Jernej Kovac, Alenka Trampus Bakija, Vladan Rajic, Nika Kojc, Katarina Trebusak Podkrajsek
Publikováno v:
Nefrología, Vol 40, Iss 4, Pp 421-428 (2020)
Background: Hereditary spherocytosis is clinically and genetically heterogeneous disorder and its clinical characteristics are spherocytosis, anaemia, jaundice and splenomegaly. The aetiology is associated to the genes encoding proteins involved in t
Externí odkaz:
https://doaj.org/article/90587a63775d40c2a850e5c835119e8a
Autor:
Ziga I. Remec, Katarina Trebusak Podkrajsek, Barbka Repic Lampret, Jernej Kovac, Urh Groselj, Tine Tesovnik, Tadej Battelino, Marusa Debeljak
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Newborn screening was first introduced at the beginning of the 1960s with the successful implementation of the first phenylketonuria screening programs. Early expansion of the included disorders was slow because each additional disorder screened requ
Externí odkaz:
https://doaj.org/article/7b9761f18fc04a4885fd3a0463869259
Autor:
Tatiana Marusic, Ursa Sustar, Fouzia Sadiq, Vjosa Kotori, Matej Mlinaric, Jernej Kovac, Saeed Shafi, Iqbal Khan, Matija Cevc, Katarina Trebusak Podkrajsek, Tadej Battelino, Urh Groselj
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Homozygous familial hypercholesterolemia (HoFH) and compound heterozygous familial hypercholesterolemia (cHeFH) are rare disorders generated by disease-causing variants in both alleles of the LDLR or other familial hypercholesterolemia (FH)-related g
Externí odkaz:
https://doaj.org/article/2a2afb30cbb240cdae7e29cc3029bc99
Autor:
Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger
Publikováno v:
Medicina, Vol 57, Iss 3, p 196 (2021)
Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families
Externí odkaz:
https://doaj.org/article/2a47d884aec24675b866f677f6c700ed
Autor:
Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Publikováno v:
Medicina, Vol 56, Iss 12, p 699 (2020)
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture
Externí odkaz:
https://doaj.org/article/8f2960c598ab4c82bc627529ba589f40