日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Current Status of Newborn Screening in Southeastern and Central Europe

东南欧和中欧新生儿筛查现状

Požun, Nika; Perko, Daša; Anastasovska, Violeta; Barić, Ivo; Baša, Mihail; Battelino, Tadej; Bilandžija, Iva; Brincat, Ian; Brkušanin, Miloš; Djordević, Maja; Dimova, Ivanka; Drole Torkar, Ana; Fumić, Ksenija; Gladun, Sergiu; Girginoudis, Panagiotis; Szatmári, Ildikó; Kavečan, Ivana; Katanić, Jasmina; Kotori, Vjosa; Marić, Nina; Martić, Jelena; Manđarelo, Olja; Milenković, Tatjana; Mlinarič, Matej; Moldovanu, Florentina; Nanu, Michaela; Monostori, Péter; Modeva, Iskra; Opančina, Branka; Platis, Dimitris; Raičević, Maja; Remec, Žiga Iztok; Repič Lampret, Barbka; Savov, Alexey; Skouma, Anastasia; Sovtić, Aleksandar; Stoeva, Iva; Toromanović, Alma; Trampuž, Domen; Usurelu, Natalia; Višekruna, Jelena; Vogazianos, Marios; Zeyda, Maximillian; Žerjav Tanšek, Mojca; Grošelj, Urh

Branched-chain amino acid transferase 2 (BCAT2) deficiency: A case series and systematic review

支链氨基酸转移酶2 (BCAT2) 缺乏症:病例系列及系统综述

Filipic, Maja; Remec, Ziga Iztok; Torkar, Ana Drole; Sustar, Nataša; Cuk, Vanja; Rodaro, Chiara; Debeljak, Maruša; Mlinaric, Matej; Sikonja, Jaka; Silva, Vesna Bancic; Kotnik, Primoz; Battelino, Tadej; Tansek, Mojca Zerjav; Groselj, Urh; Lampret, Barbka Repic

Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity

增强型口服葡萄糖耐量试验用于早期检测肥胖儿童的胰岛素抵抗和代谢并发症

Groselj, Urh; Kafol, Jan; Sikonja, Jaka; Mlinaric, Matej; Sket, Robert; Remec, Ziga Iztok; Kovac, Jernej; Drole Torkar, Ana; Suput Omladic, Jasna; Repic Lampret, Barbka; Battelino, Tadej; Kotnik, Primoz

Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders

一名四日龄新生儿因线粒体三功能蛋白/长链3-羟酰辅酶A脱氢酶缺乏症猝死,以及对患有脂肪酸氧化障碍的新生儿早期死亡的系统性文献综述

Drole Torkar, Ana; Klinc, Ana; Remec, Ziga Iztok; Rankovic, Branislava; Bartolj, Klara; Bertok, Sara; Colja, Sara; Cuk, Vanja; Debeljak, Marusa; Kozjek, Eva; Repic Lampret, Barbka; Mlinaric, Matej; Mohar Hajnsek, Tinka; Perko, Daša; Stajer, Katarina; Tesovnik, Tine; Trampuz, Domen; Ulaga, Blanka; Kovac, Jernej; Battelino, Tadej; Zerjav Tansek, Mojca; Groselj, Urh

International Survey on Phenylketonuria Newborn Screening

国际苯丙酮尿症新生儿筛查调查

Trampuž, Domen; Schielen, Peter C J I; Zetterström, Rolf H; Scarpa, Maurizio; Feillet, François; Kožich, Viktor; Tangeraas, Trine; Drole Torkar, Ana; Mlinarič, Matej; Perko, Daša; Remec, Žiga Iztok; Lampret, Barbka Repič; Battelino, Tadej; Isns Study Group On Pku; van Spronsen, Francjan J; Bonham, James R; Grošelj, Urh

Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia

罕见病基因疗法:医学发展史上的一个里程碑——该领域概述及斯洛文尼亚初步经验报告

Grošelj, Urh; Kavčič, Marko; Drole Torkar, Ana; Kafol, Jan; Lainšček, Duško; Jerala, Roman; Sever, Matjaž; Zver, Samo; Serša, Gregor; Čemažar, Maja; Strojan, Primož; Grošelj, Aleš; Žerjav Tanšek, Mojca; Miroševič, Špela; Ivančan, Simona; Prelog, Tomaž; Gosar, David; Oražem Mrak, Jasna; Mlinarič, Matej; Bertok, Sara; Kovač, Jernej; Kodrič, Jana; Battelino, Saba; Pokorn, Marko; Ihan, Alojz; Jazbec, Janez; Battelino, Tadej; Osredkar, Damjan

The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy-A Case Report

MTUS1基因在左心室致密化不全型心肌病发生发展中的作用——病例报告

Gorjanc, Tevž; Šikonja, Jaka; Drole Torkar, Ana; Žerjav Tanšek, Mojca; Kovač, Jernej; Bertok, Sara; Debeljak, Maruša; Dolenc-Stražar, Zvezdana; Meznarič, Marija; Mlakar, Jernej; Topalović, Mirko; Mlakar, Gorazd; Battelino, Tadej; Grošelj, Urh

Case report: The success of empagliflozin therapy for glycogen storage disease type 1b

病例报告:恩格列净治疗1b型糖原贮积症的成功案例

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

The role of communication in the successful implementation of the Slovenian NCCP

沟通在斯洛文尼亚国家控制气候变化政策成功实施中的作用

Avutu, Viswatej; Monga, Varun; Mittal, Nupur; Saha, Aniket; Andolina, Jeffrey R; Bell, Danielle E; Fair, Douglas B; Flerlage, Jamie E; Frediani, Jamie N; Heath, Jessica L; Kahn, Justine M; Reichek, Jennifer L; Super, Leanne; Terao, Michael A; Freyer, David R; Roth, Michael E; Plantosar, K; Duratovic Konjevic, A; Tomsic, S; Zgajnar, J; Zakotnik, B; Torkar, K

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review

VIPAS39相关关节挛缩-肾功能障碍-胆汁淤积综合征——病例报告及系统评价

Kafol, Jan; Gnidovec Strazisar, Barbara; Drole Torkar, Ana; Homan, Matjaz; Bertok, Sara; Mlinaric, Matej; Sikonja, Jaka; Kovač, Jernej; Perkovic Benedik, Mirjana; Kersnik Levart, Tanja; Zerjav Tansek, Mojca; Praprotnik, Marina; Battelino, Tadej; Debeljak, Maruša; Groselj, Urh