Matthias R Baumgartner

Matthias R Baumgartner

Universität Zürich - Zurich / Switzerland
Others
AD Scientific Index ID: 1091936
University of Zurich
person_outline Matthias R Baumgartner's MOST POPULAR ARTICLES
1-) Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMR Baumgartner, F Hörster, C Dionisi-Vici, G Haliloglu, D Karall, ...Orphanet journal of rare diseases 9 (1), 1-36, 20145312014
2-) Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ...Nature medicine 12 (3), 307-309, 20065222006
3-) Exome sequencing and the management of neurometabolic disordersM Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ...New England Journal of Medicine 374 (23), 2246-2255, 20162912016
4-) Recommendations on the diagnosis and management of Niemann-Pick disease type CJE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ...Molecular genetics and metabolism 98 (1-2), 152-165, 20093022009
5-) Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyM Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ...Journal of inherited metabolic disease 40, 21-48, 20172822017