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

Fecal Detection of Calprotectin Subunits Links Inflammatory Bowel Disease Activity With Chronicity of Intestinal Inflammation

粪便中钙卫蛋白亚基的检测将炎症性肠病活动性与肠道炎症的慢性化联系起来

Jukic, Almina; Hilbe, Richard; Zundel, Luis; Willeit, Peter; Faserl, Klaus; Plattner, Christina; Zollner, Andreas; Meyer, Moritz; Siegmund, Kerstin; Klepsch, Victoria; Marteau, Valentin; Vich Vila, Arnau; Schwärzler, Julian; Vouk, Kathrin; Kozsar, Anna; Rieder, Dietmar; Weichberger, Amos; Sarg, Bettina; Grabherr, Felix; Mayr, Lisa; Moser, Patrizia; Nemati, Niloofar; Scholl-Bürgi, Sabine; Karall, Daniela; Vogel, Georg F; Welz, Lina; Aldrian, Denise; Koch, Robert; Pfister, Alexandra; Ran, Qitao; Kaser, Arthur; Blumberg, Richard S; Tancevski, Ivan; Sommer, Felix; Bacher, Petra; Schreiber, Stefan; Rosenstiel, Philip; Aden, Konrad; Baier, Gottfried; Bakiri, Latifa; Müller, Thomas; Weiss, Günter; Weersma, Rinse K; Trajanoski, Zlatko; Wagner, Erwin F; Tilg, Herbert; Adolph, Timon E

Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials

精氨酸酶1缺乏症的临床特征:来自国际临床试验的自然病程见解

Rudebeck, Mattias; Braverman, Nancy; Chang, Richard; Enns, Gregory M; Ghosh, Arunabha; Gorce, Magali; Karall, Daniela; Sharma, Reena; Shelkowitz, Emily; Zori, Roberto; McNutt, Markey

TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescence

TXNIP介导LAT1/SLC7A5内吞作用,从而限制进入静止期细胞对氨基酸的摄取。

Jennifer Kahlhofer # ,Nikolas Marchet # ,Kristian Zubak ,Brigitta Seifert ,Madlen Hotze ,Anna-Sophia Egger-Hörschinger ,Lucija Kucej ,Claudia Manzl ,Yannick Weyer ,Sabine Weys ,Martin Offterdinger ,Sebastian Herzog ,Veronika Reiterer ,Chiara Volani ,Marcel Kwiatkowski ,Saskia B Wortmann ,Siamak Nemati ,Johannes A Mayr ,Johannes Zschocke ,Bernhard Radlinger ,Kathrin Thedieck ,Leopold Kremser ,Bettina Sarg ,Lukas A Huber ,Hesso Farhan ,Mariana E G de Araujo ,Susanne Kaser ,Sabine Scholl-Bürgi ,Daniela Karall ,David Teis

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

仅靠新生儿筛查无法预防大多数婴儿出生第一年内发生的严重维生素B12缺乏症。

Kaufman, Christina; Margreitter, Julian; Herle, Marion; Bonfig, Walter; Däster, Corinne; Heinrich, Bianka; Karall, Daniela; Kogler, Hubert; Konstantopoulou, Vassiliki; Laemmle, Alexander; Malär, Reta; Müller, Pascal; Pöll, Veronika; Poms, Martin; Righini-Grunder, Franziska; Saurenmann, Rotraud K; Sluka, Susanna; von der Weid, Nicolas; Zeyda, Maximilian; Baumgartner, Matthias R; Huemer, Martina

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

母乳喂养对遗传性代谢紊乱患者的影响:生长、代谢控制和神经发育结果的系统性综述

Ilgaz, Fatma; Höller, Alexander; Marsaux, Cyril; Banta-Wright, Sandra; Coşkun, Turgay; Dingess, Kelly A; Jörg-Streller, Monika; Newby, Camille; Singh, Rani; Stahl, Bernd; Szwec, Clare; van Wegberg, Annemiek; Woestenenk, Willie; MacDonald, Anita; Karall, Daniela

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries

酪氨酸血症1型患者的诊断、治疗、管理和监测:德语国家共识小组的建议

Das, Anibh M; Ballhausen, Diana; Haas, Dorothea; Häberle, Johannes; Hagedorn, Tobias; Janson-Mutsaerts, Cecilia; Janzen, Nils; Sander, Johannes; Freisinger, Peter; Karall, Daniela; Meyer, Uta; Mönch, Eberhard; Morlot, Susanne; Rosenbaum-Fabian, Stefanie; Scholl-Bürgi, Sabine; Vom Dahl, Stephan; Weinhold, Natalie; Zeman, Jiri; Lange, Karin

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

两例PIGQ-CDG新病例:基因型-表型谱的扩展及GestaltMatcher作为诊断工具的评估

Kušíková, Katarína; Hsieh, Tzung-Chien; Pfeifer, Mateja; Fauth, Christine; Murakami, Yoshiko; Laccone, Franco; Karall, Daniela; Bonfig, Walter; Stewart, Helen; Weis, Denisa

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings

两名兄弟姐妹携带纯合DHCR7 p.Val330Met变异,与轻度非综合征性智力障碍和血清7-脱氢胆固醇水平升高相关

Hackl, Lukas; Haberlandt, Edda; Müller, Thomas; Piribauer, Susanne; Garczarczyk-Asim, Dorota; Zöggeler, Thomas; Karall, Daniela; Zschocke, Johannes; Janecke, Andreas R

Implications of Tongue and Lingual Frenulum Anatomy for Tongue-Tie Evaluation and Management

舌及舌系带解剖结构对舌系带过短评估和治疗的影响

Guóth-Gumberger, Márta; Karall, Daniela

Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 Diabetes

治疗相反的代谢状况:GLUT1 缺乏症和 1 型糖尿病

Schoenlaub, Anna K; Hoeller, Alexander; Hofer, Sabine; Haberlandt, Edda; Steichen-Gersdorf, Elisabeth; Karall, Daniela; Forster, Dorottya; Scholl-Bürgi, Sabine