Items where Author is "Baumgartner, Matthias R."

2021

Zimmermann, Bettina M. and Eichinger, Johanna and Baumgartner, Matthias R.. (2021) A systematic review of moral reasons on orphan drug reimbursement. Orphanet Journal of Rare Diseases, 16. p. 292.

2019

Royer-Bertrand, Béryl and Tsouni, Pinelopi and Mullen, Patrick and Campos Xavier, Belinda and Mittaz Crettol, Lauréane and Lobrinus, Alexander J. and Ghika, Joseph and Baumgartner, Matthias R. and Rivolta, Carlo and Superti-Furga, Andrea and Kuntzer, Thierry and Francklyn, Christopher and Tran, Christel. (2019) Peripheral neuropathy and cognitive impairment associated with a novel monoallelic; HARS; variant. Annals of clinical and translational neurology, 6 (6). pp. 1072-1080.

2016

Jamiolkowski, Dagmar and Kölker, Stefan and Glahn, Esther M. and Barić, Ivo and Zeman, Jiri and Baumgartner, Matthias R. and Mühlhausen, Chris and Garcia-Cazorla, Angels and Gleich, Florian and Haege, Gisela and Burgard, Peter. (2016) Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. Journal of inherited metabolic disease, 39 (2). pp. 231-241.

2011

Traber, Ghislaine and Baumgartner, Matthias R. and Schwarz, Urs and Pangalu, Athina and Donath, Marc Y. and Landau, Klara. (2011) Subacute bilateral visual loss in methylmalonic acidemia. Journal of neuro-ophthalmology, Vol. 31, H. 4. pp. 344-346.

2009

Stucki, Martin and Suormala, Terttu and Fowler, Brian and Valle, David and Baumgartner, Matthias R.. (2009) Cryptic exon activation by disruption of exon splice enhancer : novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. Journal of biological chemistry, Vol. 284, H. 42. pp. 28953-28957.

Lerner-Ellis, Jordan P. and Anastasio, Natascia and Liu, Junhui and Coelho, David and Suormala, Terttu and Stucki, Martin and Loewy, Amanda D. and Gurd, Scott and Grundberg, Elin and Morel, Chantal F. and Watkins, David and Baumgartner, Matthias R. and Pastinen, Tomi and Rosenblatt, David S. and Fowler, Brian. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Human mutation, Vol. 30, no. 7. pp. 1072-1081.

2008

Coelho, David and Suormala, Terttu and Stucki, Martin and Lerner-Ellis, Jordan P. and Rosenblatt, David S. and Newbold, Robert F. and Baumgartner, Matthias R. and Fowler, Brian. (2008) Gene identification for the cblD defect of vitamin B12 metabolism. The New England journal of medicine, Vol. 358, no. 14. pp. 1454-1464.

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.

2005

Dantas, Maria Fernanda and Suormala, Terttu and Randolph, Ann and Coelho, David and Fowler, Brian and Valle, David and Baumgartner, Matthias R.. (2005) 3-Methylcrotonyl-CoA carboxylase deficiency : mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Human mutation, Vol. 26, no. 2. p. 164.

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.

Suormala, Terttu and Baumgartner, Matthias R. and Coelho, David and Zavadakova, Petra and Kozich, Viktor and Koch, Hans Georg and Berghaüser, Martin and Wraith, James E. and Burlina, Alberto and Sewell, Adrian and Herwig, Jürgen and Fowler, Brian. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. Journal of biological chemistry, Vol. 279, no. 41. pp. 42742-42749.