Items where Author is "Baumgartner, E. Regula"

2007

Hörster, Friederike and Baumgartner, Matthias R. and Viardot, Caroline and Suormala, Terttu and Burgard, Peter and Fowler, Brian and Hoffmann, Georg F. and Garbade, Sven F. and Kölker, Stefan and Baumgartner, E. Regula. (2007) Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatric Research, 62 (2). pp. 225-230.

Lempp, Thomas J. and Suormala, Terttu and Siegenthaler, Renate and Baumgartner, E. Regula and Fowler, Brian and Steinmann, Beat and Baumgartner, Matthias R.. (2007) Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria : identification of seven novel mutations. Molecular genetics and metabolism, Vol. 90, no. 3. pp. 284-290.

2004

Baumgartner, Matthias R. and Dantas, M. Fernanda and Suormala, Terttu and Almashanu, Shlomo and Giunta, Cecilia and Friebel, Dolores and Gebhardt, Boris and Fowler, Brian and Hoffmann, Georg F. and Baumgartner, E. Regula and Valle, David. (2004) Isolated 3-methylcrotonyl-CoA carboxylase deficiency : evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. American journal of human genetics, Vol. 75, H. 5. pp. 790-800.