基本信息
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个人简介
Prof Baumgartner is an internationally renowned metabolic paediatrician and scientist with a main research interest in disorders of intracellular cobalamin metabolism including homocystinurias and methylmalonic acidurias. He is a member of the steering committees of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD; www.e-hod.org) and the European Registry and Network of Intoxication Type Metabolic Diseases (E-IMD; www.e-imd.org) and also an editor of the Journal of Inherited Metabolic Disease. At UZH, he initiated the Rare Disease Initiative Zurich (radiz) Clinical Research Priority Program, which was followed by the Innovative Therapies in Rare Diseases (ITINERARE) University Research Priority Program, of which he is a co-director.
研究兴趣
论文共 327 篇作者统计合作学者相似作者
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JOURNAL OF INHERITED METABOLIC DISEASEno. 1 (2025)
Matthew C S Denley,Monique S Straub, Giulio Marcionelli, Miriam A Güra,David Penton,Igor Delvendahl,Martin Poms, Beata Vekeriotaite, Sarah Cherkaoui,Federica Conte,Ferdinand von Meyenn,D Sean Froese,Matthias R Baumgartner
Communications biologyno. 1 (2025): 410-410
Sarah C Grünert,Matthias R Baumgartner, Juliette Bouchereau,Alberto Burlina, Peter T Clayton,Javier de Las Heras,Carlo Dionisi-Vici, Corinne Gemperle-Britschgi,Claudia Haase,Stanley H Korman, Johannes Krämer, Eva Kühlwein,Esther M Maier,Arianna Maiorana,Manuel Schiff, Carl Ulrich Schmid,Trine Tangeraas,Raina Yamamoto,Johannes Zschocke, Jörn Oliver Sass
Genetics in medicine official journal of the American College of Medical Geneticspp.101484-101484, (2025)
Free Radical Biology and Medicine (2024)
Journal of pediatric psychologyno. 11 (2024): 827-839
Rebeca Mozun,Fabien N. Belle, Andrea Agostini,Matthias R. Baumgartner,Jacques Fellay,Christopher B. Forrest,D. Sean Froese,Eric Giannoni,Sandra Goetze, Kathrin Hofmann,Philipp Latzin,Roger Lauener, Aurelie Martin Necker,Kelly Ormond,Jana Pachlopnik Schmid,Patrick G. A. Pedrioli,Klara M. Posfay-Barbe,Anita Rauch,Sven Schulzke,Martin Stocker,Ben D. Spycher,Effy Vayena,Tatjana Welzel,Nicola Zamboni,Julia E. Vogt,Luregn J. Schlapbach,Julia A. Bielicki,Claudia E. Kuehni, SwissPedHealth Consortium
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): 40-40
E. S. L. Pedersen,C. M. de Jong Carmen,M. Jurca, D. O. Berger, J. Sanz,S. H. M. Sluka,M. Poms,M. R. Baumgartner,N. Regamey,C. E. Kuehni,J. Barben,C. S. Rueegg, Swiss Cystic Fibrosis Newborn Screening Group Swiss C
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作者统计
#Papers: 326
#Citation: 11003
H-Index: 55
G-Index: 96
Sociability: 7
Diversity: 3
Activity: 27
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