Tansek相关文献与解析，生知库 | 链接生命科学的每一步

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

发表日期：2026

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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

期刊:International Journal of Neonatal Screening

影响因子:4

doi:10.3390/ijns11010009

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

Prolonged cultivation enhances the stimulatory activity of hiPSC mesenchymal progenitor-derived conditioned medium

长时间培养可增强 hiPSC 间充质祖细胞衍生条件培养基的刺激活性

期刊:Stem Cell Research

影响因子:7.1

doi:10.1186/s13287-024-03960-5

Darja Marolt Presen, Vanessa Goeschl, Dominik Hanetseder, Laura Ogrin, Alexandra-Larissa Stetco, Anja Tansek, Laura Pozenel, Bella Bruszel, Goran Mitulovic, Johannes Oesterreicher, Johannes Zipperle, Barbara Schaedl, Wolfgang Holnthoner, Johannes Grillari, Heinz Redl

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

期刊:Frontiers in Endocrinology

影响因子:4.6

doi:10.3389/fendo.2024.1365700

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

发表日期：2024

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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

期刊:Orphanet Journal of Rare Diseases

影响因子:3.5

doi:10.1186/s13023-024-03486-2

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

发表日期：2024

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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

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

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms24032487

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

发表日期：2023

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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

遗传和临床特征，包括斯洛伐克和斯洛文尼亚先天性肾上腺皮质增生症（由21-羟化酶缺乏症引起）患者睾丸肾上腺残余肿瘤的发生情况。

期刊:Frontiers in Endocrinology

影响因子:4.6

doi:10.3389/fendo.2023.1134133

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

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

一例由新型APOB变异引起的杂合子家族性低β脂蛋白血症患儿并发非酒精性脂肪性肝病：病例报告及系统性文献综述

期刊:Frontiers in Medicine

影响因子:3

doi:10.3389/fmed.2023.1106441

Molk, Neza; Bitenc, Mojca; Urlep, Darja; Zerjav Tansek, Mojca; Bertok, Sara; Trebusak Podkrajsek, Katarina; Sustar, Ursa; Kovac, Jernej; Battelino, Tadej; Debeljak, Marusa; Groselj, Urh

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program

优化新生儿筛查项目中苯丙氨酸的临界值

期刊:Genes

影响因子:2.8

doi:10.3390/genes13030517

Perko, Dasa; Repic Lampret, Barbka; Remec, Ziga Iztok; Zerjav Tansek, Mojca; Drole Torkar, Ana; Krhin, Blaz; Bicek, Ajda; Oblak, Adrijana; Battelino, Tadej; Groselj, Urh

发表日期：2022

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Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

对携带新型NNT致病变异导致原发性肾上腺皮质功能不全的三名家庭成员进行长期随访

期刊:Genes

影响因子:2.8

doi:10.3390/genes13050717

Krasovec, Tjasa; Sikonja, Jaka; Zerjav Tansek, Mojca; Debeljak, Marusa; Ilovar, Sasa; Trebusak Podkrajsek, Katarina; Bertok, Sara; Tesovnik, Tine; Kovac, Jernej; Suput Omladic, Jasna; Hartmann, Michaela F; Wudy, Stefan A; Avbelj Stefanija, Magdalena; Battelino, Tadej; Kotnik, Primoz; Groselj, Urh

免疫/内分泌

发表日期：2022

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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

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

Prolonged cultivation enhances the stimulatory activity of hiPSC mesenchymal progenitor-derived conditioned medium

长时间培养可增强 hiPSC 间充质祖细胞衍生条件培养基的刺激活性

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

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

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

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

遗传和临床特征，包括斯洛伐克和斯洛文尼亚先天性肾上腺皮质增生症（由21-羟化酶缺乏症引起）患者睾丸肾上腺残余肿瘤的发生情况。

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

一例由新型APOB变异引起的杂合子家族性低β脂蛋白血症患儿并发非酒精性脂肪性肝病：病例报告及系统性文献综述

Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program

优化新生儿筛查项目中苯丙氨酸的临界值

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

对携带新型NNT致病变异导致原发性肾上腺皮质功能不全的三名家庭成员进行长期随访