Search Results - "Žerjav Tanšek, Mojca"

Neonatal Thyrotoxicosis in Infants of Mothers with Graves' Disease Treated for Radioiodine-Induced Hypothyroidism: A Literature Review by Jankovski, Lucia, Grosek, Štefan, Žerjav, Mojca Tanšek, Šimic, Marijana Vidmar, Zaletel, Katja

“…Fetal and neonatal thyrotoxicosis occurs in up to 5% of pregnancies in mothers with Graves' disease (GD). This condition is caused by stimulating antibodies…”
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Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing by Lampret, Barbka Repič, Remec, Žiga Iztok, Torkar, Ana Drole, Tanšek, Mojca Žerjav, Šmon, Andraz, Koračin, Vanesa, Čuk, Vanja, Perko, Daša, Ulaga, Blanka, Jelovšek, Ana Marija, Debeljak, Maruša, Kovač, Jernej, Battelino, Tadej, Grošelj, Urh

“…In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and…”
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A New Case of an Extremely Rare 3p21.31 Interstitial Deletion by Lovrecic, Luca, Bertok, Sara, Žerjav Tanšek, Mojca

“…Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics,…”
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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population by Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej

“…Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these…”
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Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini by Jalšovec, Tadej, Lah, Benjamin, Bernardo, Maria Ester, Drole Torkar, Ana, Kodrič, Jana, Žerjav Tanšek, Mojca, Avčin, Simona Lucija, Aiuti, Alessandro, Battelino, Tadej, Grošelj, Urh

“…Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane,…”
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Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease by Sabovic, Eva Klara Merzel, Tansek, Mojca Zerjav, Groselj, Urh, Dragos, Vlasta

“…Angiokeratomas are the cutaneous hallmark of Fabry disease. Although it is well established that enzyme replacement therapy (ERT) prevents or slows the…”
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Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review by 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

“…Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency…”
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PRIROJENE PRESNOVNE BOLEZNI IN DIAGNOSTICIRANJE SPEKTROAVTISTIČNIH MOTENJ by Krivec Penič, Anja, Prijatelj, Živa, Ločičnik, Manca, Žerjav Tanšek, Mojca

“…Spektroavtistične motnje (SAM) so kompleksne razvojne motnje, ki se kažejo predvsem kot kakovostno spremenjeno vedenje na področju socialnih interakcij,…”
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GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV by Lah, Benjamin, Jalšovec, Tadej, Drole Torkar, Ana, Kodrič, Jana, Battelino, Saba, Žerjav Tanšek, Mojca, Battelino, Tadej, Grošelj, Urh

“…Mukopolisaharidoze so lizosomske bolezni kopičenja, pri katerih se klinična slika razvija postopno. Bolezni napredujejo in prizadenejo številne organe. S…”
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Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji by Šmon, Andraž, Grošelj, Urh, Žerjav Tanšek, Mojca, Biček, Ajda, Oblak, Adrijana, Zupančič, Mirjana, Kržišnik, Ciril, Repič Lampret, Barbka, Murko, Simona, Hojker, Sergej, Battelino, Tadej

“…Introduction. Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the…”
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Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features / Klinična in Molekularna Citogenetska Obravnava Otrok Z Razvojnim Zaostankom in Displastičnimi Znaki by Bertok, Sara, Žerjav Tanšek, Mojca, Kotnik, Primož, Battelino, Tadej, Volk, Marija, Pecile, Vanna, Cleva, Lisa, Gasparini, Paolo, Kovač, Jernej, Hovnik, Tinka

“…Introduction. Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution…”
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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji by Lampret, Barbka Repič, Murko, Simona, Tanšek, Mojca Žerjav, Podkrajšek, Katarina Trebušak, Debeljak, Maruša, Šmon, Andraž, Battelino, Tadej

“…Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although…”
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Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach by Stanimirovic, Dalibor, Murko, Eva, Battelino, Tadej, Groselj, Urh, Zerjav Tansek, Mojca

“…Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian…”
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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 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

“…Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining…”
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Genetske in klinicne znacilnosti bolnikov s fenilketonurijo v Sloveniji by Groselj, Urh, Tansek, Mojca Zerjav, Podkrajsek, Katarina Trebusak, Battelino, Tadej

“…Abstract Phenylketonuria (PKU), an autosomal recessive disease, is the most common inborn error of amino acid metabolism in Caucasians, aecting 1/10,000…”
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Case report: The success of empagliflozin therapy for glycogen storage disease type 1b by Klinc, Ana, Groselj, Urh, Mlinaric, Matej, Homan, Matjaz, Markelj, Gasper, Mezek Novak, Ajda, Sirca Campa, Andreja, Sikonja, Jaka, Battelino, Tadej, Zerjav Tansek, Mojca, Drole Torkar, Ana

“…Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of…”
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Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by 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

“…To analyze the mutational spectrum, clinical characteristics, genotype-phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal…”
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Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A by Kavčič, Alja, Homan, Matjaž, Živanović, Milanka, Debeljak, Maruša, Butenko, Tita, Drole Torkar, Ana, Žerjav Tanšek, Mojca, Bertok, Sara, Battelino, Tadej, Groselj, Urh

“…BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in…”
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Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa by Marusic, Tatiana, Zerjav Tansek, Mojca, Sirca Campa, Andreja, Mezek, Ajda, Berden, Pavel, Battelino, Tadej, Groselj, Urh

“…Now 15-year-old girl with glycogen storage disease (GSD) type IIIa (OMIM 232400) developed severe left ventricular obstructive hypertrophy and hepatomegaly…”
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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 review by Molk, Neza, Bitenc, Mojca, Urlep, Darja, Zerjav Tansek, Mojca, Bertok, Sara, Trebusak Podkrajsek, Katarina, Sustar, Ursa, Kovac, Jernej, Battelino, Tadej, Debeljak, Marusa, Groselj, Urh

“…Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the gene that frequently interferes with protein…”
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