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

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

生酮饮食治疗线粒体苹果酸天冬氨酸穿梭和丙酮酸载体缺陷

Bölsterli Bigna K, Boltshauser Eugen, Palmieri Luigi, Spenger Johannes, Brunner-Krainz Michaela, Distelmaier Felix, Freisinger Peter, Geis Tobias, Gropman Andrea L, Häberle Johannes, Hentschel Julia, Jeandidier Bruno, Karall Daniela, Keren Boris, Klabunde-Cherwon Annick, Konstantopoulou Vassiliki, Kottke Raimund, Lasorsa Francesco M, Makowski Christine, Mignot Cyril, O'Gorman Tuura Ruth, Porcelli Vito, Santer René, Sen Kuntal, Steinbrücker Katja, Syrbe Steffen, Wagner Matias, Ziegler Andreas, Zöggeler Thomas, Mayr Johannes A, Prokisch Holger, Wortmann Saskia B

100 years of inherited metabolic disorders in Austria-A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

奥地利遗传代谢病百年史——1921年至2021年间奥地利先天性代谢缺陷最低出生患病率、诊断和临床结果的国家登记册

Ramoser, Gabriele; Caferri, Federica; Radlinger, Bernhard; Brunner-Krainz, Michaela; Herbst, Sybille; Huemer, Martina; Hufgard-Leitner, Miriam; Kircher, Susanne G; Konstantopoulou, Vassiliki; Löscher, Wolfgang; Möslinger, Dorothea; Plecko, Barbara; Spenger, Johannes; Stulnig, Thomas; Sunder-Plassmann, Gere; Wortmann, Saskia; Scholl-Bürgi, Sabine; Karall, Daniela

A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

奥地利在新冠疫情封锁期间对苯丙酮尿症儿童和青少年疾病管理的回顾性研究

Herle, Marion; Brunner-Krainz, Michaela; Karall, Daniela; Goeschl, Bernadette; Möslinger, Dorothea; Zobel, Joachim; Plecko, Barbara; Scholl-Bürgi, Sabine; Spenger, Johannes; Wortmann, Saskia B; Huemer, Martina

The genotypic and phenotypic spectrum of MTO1 deficiency

MTO1缺陷的基因型和表型谱

O'Byrne, James J; Tarailo-Graovac, Maja; Ghani, Aisha; Champion, Michael; Deshpande, Charu; Dursun, Ali; Ozgul, Riza K; Freisinger, Peter; Garber, Ian; Haack, Tobias B; Horvath, Rita; Barić, Ivo; Husain, Ralf A; Kluijtmans, Leo A J; Kotzaeridou, Urania; Morris, Andrew A; Ross, Colin J; Santra, Saikat; Smeitink, Jan; Tarnopolsky, Mark; Wortmann, Saskia B; Mayr, Johannes A; Brunner-Krainz, Michaela; Prokisch, Holger; Wasserman, Wyeth W; Wevers, Ron A; Engelke, Udo F; Rodenburg, Richard J; Ting, Teck Wah; McFarland, Robert; Taylor, Robert W; Salvarinova, Ramona; van Karnebeek, Clara D M

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

突变筛查揭示了新的变异,并扩展了与 DYNC1H1 相关的表型

Strickland, Alleene V; Schabhüttl, Maria; Offenbacher, Hans; Synofzik, Matthis; Hauser, Natalie S; Brunner-Krainz, Michaela; Gruber-Sedlmayr, Ursula; Moore, Steven A; Windhager, Reinhard; Bender, Benjamin; Harms, Matthew; Klebe, Stephan; Young, Peter; Kennerson, Marina; Garcia, Avencia Sanchez Mejias; Gonzalez, Michael A; Züchner, Stephan; Schule, Rebecca; Shy, Michael E; Auer-Grumbach, Michaela

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

14 名奥地利长链 3-羟基酰基辅酶 A 脱氢酶缺乏症 (LCHADD) 患者的临床结果、生化和治疗随访

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

一项针对168例肝肾酪氨酸血症患者的横断面研究及其对临床实践的意义

Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria Garcia; de Baulny, Hélène Ogier; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie Sophia; Cocho de Juan, José Angel; Couce Pico, Maria Luz; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; Bliksrud, Yngve Thomas; Freisinger, Peter; Aldamiz-Echevarria, Luis Jose; Hochuli, Michel; Gautschi, Matthias; Endig, Jessica; Jordan, Jens; McKiernan, Patrick; Ernst, Stefanie; Morlot, Susanne; Vogel, Arndt; Sander, Johannes; Das, Anibh Martin

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

丙酸血症:55例儿童和青少年患者的临床病程和预后

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver