Saskia B Wortmann - University Children's Hospital, Paracelsus Medical University (PMU),

基本信息

浏览量：0

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 195 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Current Management of Primary Mitochondrial Disorders in EU Countries: the European Reference Networks Survey

Michelangelo Mancuso,Piervito Lopriore,Costanza Lamperti, Thomas Klopstock,Shamima Rahman,Laura Licchetta,Cornelia Kornblum,Saskia B. Wortmann,Hélène Dollfus,Maria T. Papadopoulou,Alexis Arzimanoglou,Maurizio Scarpa,Holm Graessner,Teresinha Evangelista

JOURNAL OF NEUROLOGYno. 2 (2024): 835-840

引用0浏览0WOS引用

Repurposing Empagliflozin in Individuals with Glycogen Storage Disease Ib: A Value-Based Healthcare Approach and Systematic Benefit-Risk Assessment

Terry G. J. Derks,Annieke Venema,Clara Koeller,Eline Bos, Ruben J. Overduin,Nina N. Stolwijk,Peter Hofbauer,Mathieu S. Bolhuis, Fred van Eenennaam,Henk Groen,Carla E. M. Hollak,Saskia B. Wortmann

JOURNAL OF INHERITED METABOLIC DISEASEno. 2 (2024): 244-254

引用0浏览0WOS引用

Ending an Odyssey? the Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

Oliver Heath, Emma Hammerl, Anna Spitzinger,Saskia B. Wortmann

Journal of Personalized Medicineno. 5 (2024): 523

引用0浏览0WOS引用

Treatment Recommendations for Glycogen Storage Disease Type IB- Associated Neutropenia and Neutrophil Dysfunction with Empagliflozin: Consensus from an International Workshop

Sarah C. Grünert,Terry G.J. Derks,Helen Mundy,R. Neil Dalton,Jean Donadieu,Peter Hofbauer, Neil Jones,Sema Kalkan Uçar, Jamas LaFreniere, Enrique Landelino Contreras,Surekha Pendyal,Alessandro Rossi,Blair Schneider,Ronen Spiegel,Karolina M. Stepien,Dorota Wesol-Kucharska,Maria Veiga-da-Cunha,Saskia B. Wortmann

Molecular Genetics and Metabolismno. 3 (2024): 108144

引用0浏览0WOS引用

Biallelic Variants in Plexin B2 (PLXNB2) Cause Amelogenesis Imperfecta, Hearing Loss and Intellectual Disability

Claire E. L. Smith,Virginie Laugel-Haushalter, Ummey Hany,Sunayna Best,Rachel L. Taylor,James A. Poulter,Saskia B. Wortmann,Rene G. Feichtinger,Johannes A. Mayr,Suhaila Al Bahlani,Georgios Nikolopoulos, Alice Rigby,Graeme C. Black,Christopher M. Watson,Sahar Mansour,Chris F. Inglehearn,Alan J. Mighell,Agnes Bloch-Zupan

JOURNAL OF MEDICAL GENETICSno. 7 (2024): 689-698

引用0浏览0WOS引用

Response to Kulseth

Georg F. Vogel,René G. Feichtinger,Johannes A. Mayr,Saskia B. Wortmann

Genetics in medicineno. 3 (2024): 101040-101040

引用0浏览0引用

Genetic Landscape of Pediatric Acute Liver Failure of Indeterminate Origin

Dominic Lenz,Lea D. Schlieben,Masaru Shimura,Alyssa Bianzano,Dmitrii Smirnov,Robert Kopajtich,Riccardo Berutti,Ruediger Adam,Denise Aldrian,Ivo Baric,Ulrich Baumann,Neslihan E. Bozbulut,Melanie Brugger,Theresa Brunet,Philip Bufler,Burnyte Birute,Pier L. Calvo,Ellen Crushell,Buket Dalgic,Anibh M. Das,Antal Dezsofi,Felix Distelmaier,Alexander Fichtner,Peter Freisinger,Sven F. Garbade,Harald Gaspar,Louise Goujon,Nedim Hadzic,Steffen Hartleif,Bianca Hegen,Maja Hempel,Stephan Henning,Andre Hoerning,Roderick Houwen,Joanne Hughes,Raffaele Iorio,Katarzyna Iwanicka-Pronicka,Martin Jankofsky,Norman Junge,Ino Kanavaki,Aydan Kansu,Sonja Kaspar,Simone Kathemann,Deidre Kelly,Ceyda T. Kirsaclioglu,Birgit Knoppke,Martina Kohl,Heike Koelbel,Stefan Koelker,Vassiliki Konstantopoulou,Tatiana Krylova,Zarife Kuloglu,Alice Kuster,Martin W. Laass,Elke Lainka,Eberhard Lurz,Hanna Mandel,Katharina Mayerhanser,Johannes A. Mayr,Patrick McKiernan,Patricia McClean,Valerie McLin,Karine Mention,Hanna Mueller,Laurent Pasquier, Martin Pavlov,Natalia Pechatnikova,Bianca Peters,Danijela Petkovic Ramadza,Dorota Piekutowska-Abramczuk,Denisa Pilic,Sanjay Rajwal,Nathalie Rock,Agnes Roetig,Rene Santer, Wilfried Schenk,Natalia Semenova,Christiane Sokollik,Ekkehard Sturm,Robert W. Taylor,Eva Tschiedel,Vaidotas Urbonas,Roser Urreizti,Jan Vermehren,Jerry Vockley,Georg-Friedrich Vogel,Matias Wagner,Wendy van der Woerd,Saskia B. Wortmann,Ekaterina Zakharova,Georg F. Hoffmann,Thomas Meitinger,Kei Murayama,Christian Staufner,Holger Prokisch

HEPATOLOGY（2024）

引用0浏览0WOS引用

Digenic Leigh Syndrome on the Background of the M.11778g>a Leber Hereditary Optic Neuropathy Variant

Beryll Blickhaeuser,Sarah L. Stenton,Christiane M. Neuhofer, Elisa Floride,Victoria Nesbitt,Carl Fratter,Johannes Koch, Birgit Kauffmann,Claudia Catarino,Lea Dewi Schlieben,Robert Kopajtich,Valerio Carelli,Alfredo A. Sadun,Robert McFarland, Fang,Chiara La Morgia,Stephanie Paquay,Marie Cecile Nassogne,Daniele Ghezzi,Costanza Lamperti,Saskia Wortmann,Jo Poulton, Thomas Klopstock,Holger Prokisch

BRAINno. 6 (2024): 1967-1974

引用0浏览0WOS引用

Loss-of-function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Patrick R. Blackburn,Frederic Ebstein,Tzung-Chien Hsieh,Marialetizia Motta,Francesca Clementina Radio,Johanna C. Herkert,Tuula Rinne,Isabelle Thiffault,Michele Rapp,Mariel Alders,Saskia Maas,Benedicte Gerard,Thomas Smol,Catherine Vincent-Delorme,Benjamin Cogne,Bertrand Isidor,Marie Vincent,Ruxandra Bachmann-Gagescu,Anita Rauch,Pascal Joset,Giovanni Battista Ferrero,Andrea Ciolfi,Thomas Husson,Anne-Marie Guerrot,Carlos Bacino,Colleen Macmurdo,Stephanie S. Thompson,Jill A. Rosenfeld,Laurence Faivre,Frederic Tran Mau-Them,Wallid Deb,Virginie Vignard,Pankaj B. Agrawal,Jill A. Madden,Alice Goldenberg,Francois Lecoquierre,Michael Zech,Holger Prokisch,Jan Necpal,Robert Jech,Juliane Winkelmann,Monika Turcanova Koprusakova,Vassiliki Konstantopoulou,John R. Younce,Marwan Shinawi,Chloe Mighton, Charlotte Fung,Chantal F. Morel,Jordan Lerner-Ellis,Stephanie Ditroia,Magalie Barth,Dominique Bonneau,Ingrid Krapels,Alexander P. A. Stegmann,Vyne van Der Schoot,Theresa Brunet,Cornelia Bussmann,Cyril Mignot, Giuseppe Zampino,Saskia B. Wortmann,Johannes A. Mayr,Rene G. Feichtinger,Thomas Courtin,Claudia Ravelli,Boris Keren,Alban Ziegler,Linda Hasadsri,Pavel N. Pichurin,Eric W. Klee,Katheryn Grand,Pedro A. Sanchez-Lara,Elke Krueger,Stephane Bezieau,Hannah Klinkhammer,Peter Michael Krawitz,Evan E. Eichler,Marco Tartaglia,Sebastien Kuery,Tianyun Wang

ANNALS OF NEUROLOGY (2024)

引用0浏览0WOS引用

The Benefit of Detecting Reduced Intracellular B12 Activity Through Newborn Screening Remains Unclear

Stella Knopfli,Bernadette Goeschl,Maximilian Zeyda,Anna Baghdasaryan, Margot Baumgartner-Kaut,Matthias R. Baumgartner,Marion Herle,Julian Margreitter,Martin Poms,Saskia B. Wortmann,Vassiliki Konstantopoulou,Martina Huemer

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 2 (2024)

引用0浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn