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

Effect of antioxidant-rich kindergarten meals on oxidative stress biomarkers in healthy 5-6-year-old children: a randomized controlled trial

富含抗氧化剂的幼儿园膳食对健康5-6岁儿童氧化应激生物标志物的影响:一项随机对照试验

Berlic, Maja; Korošec, Mojca; Remec, Žiga Iztok; Čuk, Vanja; Battelino, Tadej; Repič Lampret, Barbka

Phenylalanine-tRNA aminoacylation is compromised by ALS/FTD-associated C9orf72 C4G2 repeat RNA

ALS/FTD 相关 C9orf72 C4G2 重复 RNA 会损害苯丙氨酸-tRNA 氨酰化

Mirjana Malnar Črnigoj #, Urša Čerček #, Xiaoke Yin, Manh Tin Ho, Barbka Repic Lampret, Manuela Neumann, Andreas Hermann, Guy Rouleau, Beat Suter, Manuel Mayr, Boris Rogelj

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

串联质谱法与荧光法的比较——对大量新鲜样本进行苯丙氨酸平行测定及其对新生儿苯丙酮尿症筛查的意义

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

Attachment in close relationships and glycemic outcomes in children with type 1 diabetes

亲密关系中的依恋与1型糖尿病儿童的血糖结果

Klemenčič, Simona; Lipovšek, Jasna Klara; Turin, Anja; Dovč, Klemen; Bratina, Nataša; Shmueli-Goetz, Yael; Trebušak Podkrajšek, Katarina; Repič Lampret, Barbka; Jenko Bizjan, Barbara; Karakatič, Sašo; Battelino, Tadej; Drobnič Radobuljac, Maja

Newborn Screening in a Pandemic-Lessons Learned

疫情期间新生儿筛查——经验教训

Mlinaric, Matej; Bonham, James R; Kožich, Viktor; Kölker, Stefan; Majek, Ondrej; Battelino, Tadej; Torkar, Ana Drole; Koracin, Vanesa; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Scarpa, Maurizio; Schielen, Peter C J I; Zetterström, Rolf H; Groselj, Urh