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Št. zadetkov: 7
Obojestranska akutna periferna okvara obraznega živca-prikaz primera
Neja Turk, Tanja Loboda
Pregledni znanstveni članek
Oznake: periferna pareza;Bellova pareza;obrazni živec;nervus facialis;otroci;
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Delayed diagnosis of mild GLUT1 deficiency syndrome caused by an apparently De Novo SLC2A1 p.(Phe445del) variant in a child with a history of severe neonatal hyperkalemia
Simona Ivančan, Simona Ivančan, Maruša Debeljak, Tanja Loboda, Štefan Grosek
Kratki znanstveni prispevek
Oznake: GLUT1 deficiency syndrome;SLC2A1;whole-exome sequencing;apparently de novo variant;neurocognitive phenotype;ADHD;hyperkalemia;
Background/Objectives: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare neurometabolic disorder with an expanding clinical spectrum, including mild and non-classical presentations. We report a boy with severe transient neonatal hyperkalemia, bilateral congenital cataracts, and late ...
Leto: 2026 Vir: Repozitorij Univerze v Ljubljani (RUL)
Endocrine and metabolic complications in a national cohort of Slovene children and adolescents with Duchenne muscular dystrophy
Sončka Jazbinšek, Eva Vrščaj, Jasna Šuput, Tita Butenko, Tanja Loboda, Primož Kotnik, Damjan Osredkar
Izvirni znanstveni članek
Oznake: Duchenne muscular dystrophy;corticosteroid treatment;vamorolone;bone health;linear growth;
Aims: To assess the prevalence of endocrine/metabolic disorders among pediatric Duchenne muscular dystrophy (DMD) patients and identify individuals who would benefit from the new corticosteroid treatment available, vamorolone. Methods: A national pediatric cohort of DMD patients followed at Universi ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Early manifestations, diagnostic pathways, and epilepsy in juvenile-onset Huntington disease
Mirjana Perković-Benedik, Tanja Loboda, Katarina Benedik Kafol, Jan Kafol, Neli Bizjak
Izvirni znanstveni članek
Oznake: juvenile-onset Huntington disease;epilepsy;HTT CAG repeat expansion;basal ganglia;systematic review;seizures;
Background: Juvenile-onset Huntington disease (JoHD) is a rare form of Huntington disease characterized by symptom onset at or before 20 years of age. Early manifestations are often non-choreic and may be attributed to developmental, psychiatric, movement, metabolic, or epileptic disorders. We descr ...
Leto: 2026 Vir: Repozitorij Univerze v Ljubljani (RUL)
Eculizumab for thrombotic microangiopathy induced by onasemnogene abeparvovec in spinal muscular atrophy
Tanja Kersnik-Levart, Nina Olas Kar, Chiara Močnik Pegan, Eva Vrščaj, Anja Troha Gergeli, Tanja Loboda, Damjan Osredkar
Kratki znanstveni prispevek
Oznake: spinalna mišična atrofija;trombotična mikroangiopatija;gensko zdravljenje;spinal muscular atrophy;gene replacement therapy;onasemnogene abeparvovec;thrombotic microangiopathy;eculizumab;
Introduction: Onasemnogene abeparvovec is one of the three disease-modifying therapies available that can significantly improve the outcome of patients with 5q-spinal muscular atrophy. Therapy-induced thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition of not yet ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia
Jakob Meglič, Ajda Lisec, Ajda Lisec, Dušanka Lepej, Tanja Loboda, Sara Bertok, Petra Lešnik Musek, Ivana Kreft, Majda Oštir, Tehvida Ponjević, Anamarija Meglič
Izvirni znanstveni članek
Oznake: pediatric palliative care;implementation;life-limiting disease;life-threatening condition;quality of children’s life;
The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There are many barriers and misperceptions in pediatrics which hinder the early implementation of PPC. The aim of the study was to design starting p ...
Leto: 2023 Vir: Repozitorij Univerze v Ljubljani (RUL)
Smernice za obravnavo otroka in mladostnika z anafilaksijo
Tina Vesel, Anja Koren, Nina Emeršič, Tanja Loboda, Meta Accetto, Ruben Bizjak, Andreja Obermayer-Temlin, Matjaž Homšak, Vojko Berce, Mitja Košnik, Tadej Avčin, Mirjana Maslar, Eva Šoster-Križnik, Sonja Posega-Devetak, Barbara Urbanc, Marijana Kuhar, Vesna Glavnik, Štefan Blazina, Gašper Markelj, Nataša Toplak, Uroš Krivec, Vesna Plevnik-Vodušek, Mateja Predalič, Andrej Levanič, Mihaela Nahtigal, Marjeta Tomšič-Matić
Strokovni članek
Oznake: anafilaksija;preobčutljivostne reakcije;zdravljenje;otrok;mladostnik;smernice;
Smernice za obravnavo otroka in mladostnika z anafilaksijo
Leto: 2014 Vir: Univerza v Mariboru (UM)
Št. zadetkov: 7
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