Search Results - "Bratanič, Nevenka"

Universal Screening for Familial Hypercholesterolemia in Children by Klančar, Gašper, BSc, Grošelj, Urh, MD, Kovač, Jernej, PhD, Bratanič, Nevenka, MD, Bratina, Nataša, MD, Trebušak Podkrajšek, Katarina, PhD, Battelino, Tadej, MD

“…Abstract Background Individuals with familial hypercholesterolemia (FH) who are untreated have up to 100-fold elevated risk for cardiovascular complications…”
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Diagnosis and early management of acute hyperammonaemia by Mojca Žerjav Tanšek, Nevenka Bratanič, Tadej Battelino

“…Acute hyperammonaemia is a consequence of inborn defects of urea cycle or acute liver damage. Clinical presentation varies considerably with the age of the af…”
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Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency—a Report from the Slovenian National Registry by Blazina, Štefan, Markelj, Gašper, Jeverica, Anja Koren, Toplak, Nataša, Bratanič, Nevenka, Jazbec, Janez, Kopač, Peter, Debeljak, Maruša, Ihan, Alojz, Avčin, Tadej

“…An abnormal regulation of immune responses leads to autoimmune and inflammatory manifestations in patients with primary immunodeficiencies (PIDs). The…”
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End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome by Battelino, Nina, Writzl, Karin, Bratanič, Nevenka, Irving, Melita D, Novljan, Gregor

“…Hajdu‐Cheney syndrome (HJCYS) is a rare, autosomal dominant, skeletal disorder caused by mutations in the NOTCH2 signaling pathway for which genetic testing…”
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Bone mineral density and importance of strict gluten-free diet in children and adolescents with celiac disease by Blazina, Štefan, Bratanič, Nevenka, Čampa, Andreja Širca, Blagus, Rok, Orel, Rok

“…Abstract Objectives Low bone mineral density (BMD) is common in children and adolescents with celiac disease. Strict gluten-free diet (GFD) improves bone…”
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Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)-Long-Term Follow-Up of a Patient and Literature Review by Mlinaric, Matej, Bratanic, Nevenka, Dragos, Vlasta, Skarlovnik, Ajda, Cevc, Matija, Battelino, Tadej, Groselj, Urh

“…Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder, frequently leading to an early cardiovascular death if not adequately…”
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Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation by Hovnik, Tinka, Bratanič, Nevenka, Podkrajšek, Katarina Trebušak, Kovač, Jernej, Paro, Darja, Podnar, Tomaž, Bratina, Nataša, Battelino, Tadej

“…Donohue syndrome (leprechaunism; OMIM *246200) is a rare, recessively inherited disorder of extreme insulin resistance due to mutations in the insulin receptor…”
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NOVOSTI V OBRAVNAVI BOLEZNI PREBAVIL IN ZAPLETOV PRI CISTIČNI FIBROZI TER ORGANIZACIJA PREHODA IZ PEDIATRIČNEGA CENTRA V CENTER ZA CISTIČNO FIBROZO ZA ODRASLE by Praprotnik, Marina, Bratanič, Nevenka, Brecelj, Jernej, Fležar, Matjaž, Krivec, Uroš

“…Cystic fibrosis (CF) is the most common autosomal recessive lethal hereditary disorder among whites. Survival of patients with CF has progressively improved…”
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UP-TO-DATE MANAGEMENT OF LIVER DISEASE AND COMPLICATIONS IN CYSTIC FIBROSIS AND TRANSITION OF ADOLESCENTS FROM PEDIATRIC TO ADULT CARE by Marina Praprotnik, Nevenka Bratanič, Jernej Brecelj, Matjaž Fležar, Uroš Krivec

“…Cystic fibrosis (CF) is the most common autosomal recessive lethal hereditary disorder among whites. Survival of patients with CF has progressively improved…”
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Gonadal Function in Patients Treated for Leukemia in Childhood by Zaletel, Lorna Zadravec, Bratani, Nevenka, Jereb, Berta

“…Ovarian and testicular function were assessed in 67 long-term survivors (37 females, 30 males) treated for leukemia between 1973 and 1992. At diagnosis they…”
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Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo by Blazina, Stefan, Markelj, Gasper, Debeljak, Marusa, Jeverica, Anja Koren, Toplak, Natasa, Bratanic, Nevenka, Pokorn, Marko, Kopac, Peter, Pecnik, Andreja Pikelj, Kosnik, Mitja, Jazbec, Janez, Kuhar, Marijana, Ihan, Alojz, Avcin, Tadej

“…Background: Data from the Slovene National Primary Immunodeciency (PID) Registry are presented. Besides clinical and genetic data of patients with PID, quality…”
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Slovenski nacionalni register bolnikov s primarno imunsko pomanjkljivostjo by Blazina, Stefan, Markelj, Gašper, Debeljak, Maruša, Koren Jeverica, Anja, Toplak, Nataša, Bratanič, Nevenka, Pokorn, Marko, Kopač, Peter, Pikelj Pečnik, Andreja, Košnik, Mitja, Jazbec, Janez, Kuhar, Marijana, Ihan, Alojz, Avčin, Tadej

“…Data from Slovene national primary immunodeficiency (PID) registry are presented. Besides clinical and genetic data of patients with PID, quality indicators in…”
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Slovene national registry of patients with primary immunodeficiency by Stefan Blazina, Gašper Markelj, Maruša Debeljak, Anja Koren Jeverica, Nataša Toplak, Nevenka Bratanič, Marko Pokorn, Peter Kopač, Andreja Pikelj Pečnik, Mitja Košnik, Janez Jazbec, Marijana Kuhar, Alojz Ihan, Tadej Avčin

“…Data from Slovene national primary immunodeficiency (PID) registry are presented. Besides clinical and genetic data of patients with PID, quality indicators in…”
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Gonadal function in patients treated for Hodgkin's disease in childhood by Zaletel, Lorna Zadravec, Bratanic, Nevenka, Jereb, Berta

“…The long-term survival of patients treated for Hodgkin`s disease (HD) in childhood is high and the chief concern is now being directed toward the late effects…”
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Gonadal function in patients treated for Hodgkin′s disease in childhood by Zaletel, Lorna Zadravec, Bratanic, Nevenka, Jereb, Berta

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MANAGEMENT OF HYPERTHYROIDISM IN CHILDREN AND ADOLESCENTS – TEN YEARS EXPERIENCE by Nevenka Bratanič, Marjeta Maroša-Meolic, Nives Hočevar, Mojca Žerjav-Tanšek, Nataša Uršič-Bratina, Ciril Kržišnik, Tadej Battelino

“…Background. Graves disease is the most common cause of hyperthyrosis in children and adolescents. The optimal treatment for children with AH remains…”
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NOVOSTI V OBRAVNAVI BOLEZNI PREBAVIL IN ZAPLETOV PRI CISTIcNI FIBROZI TER ORGANIZACIJA PREHODA IZ PEDIATRIcNEGA CENTRA V CENTER ZA CISTIcNO FIBROZO ZA ODRASLE by Praprotnik, Marina, Bratanic, Nevenka, Brecelj, Jernej, Flezar, Matjaz, Krivec, Uros

“…Cystic brosis (CF) is the most common auto-somal recessive lethal hereditary disorder among whites. Survival of patients with CF has progressively improved…”
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Diagnosis and early management of acute hyperammonaemia by Tansek, Mojca Zerjav, Bratanic, Nevenka, Battelino, Tadej

“…Acute hyperammonaemia is a consequence of inborn defects of urea cycle or acute liver damage. Clinical presentation varies considerably with the age of the af…”
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