Papers authored by Matthias R. Baumgartner
Refreshing results…
2014
Jehona Jusufi,
Terttu Suormala,
Patricie Burda,
Brian Fowler,
D. Sean Froese 
,
Matthias R. Baumgartner
,
Matthias R. Baumgartner
Characterization of functional domains of the cblD (MMADHC) gene product
Upload
P. B. Mills,
Mills Pb,
S. S. M. Camuzeaux ,
Camuzeaux Ss,
Footitt Ej,
E. J. Footitt,
K. A. Mills,
Mills Ka,
P. Gissen,
L. Fisher,
K. B. Das,
Das Kb,
S. M. Varadkar,
Varadkar Sm,
S. Zuberi
and 23 other authors
,
Camuzeaux Ss,
Footitt Ej,
E. J. Footitt,
K. A. Mills,
Mills Ka,
P. Gissen,
L. Fisher,
K. B. Das,
Das Kb,
S. M. Varadkar,
Varadkar Sm,
S. Zuberi
and 23 other authors
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Download from www.ncbi.nlm.nih.gov
Stefanie Heiber,
Henryk Zulewski,
Marianne Zaugg,
Caroline Kiss,
Matthias Baumgartner
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report
Download from www.ncbi.nlm.nih.gov
Martina Huemer ,
Sabine Scholl-Bürgi,
Karine Hadaya,
Ilse Kern,
Ronny Beer,
Klaus Seppi,
Brian Fowler,
Matthias R. Baumgartner ,
Daniela Karall
Download from dx.doi.org
,
Sabine Scholl-Bürgi,
Karine Hadaya,
Ilse Kern,
Ronny Beer,
Klaus Seppi,
Brian Fowler,
Matthias R. Baumgartner ,
Daniela Karall
Download from dx.doi.org
Sabine Fischer,
Martina Huemer ,
Matthias Baumgartner ,
Federica Deodato,
Diana Ballhausen,
Avihu Boneh,
Alberto B. Burlina,
Roberto Cerone,
Paula Garcia,
Gülden Gökçay,
Stephanie Grünewald,
Johannes Häberle,
Jaak Jaeken,
David Ketteridge,
Martin Lindner
and 13 other authors
,
Matthias Baumgartner ,
Federica Deodato,
Diana Ballhausen,
Avihu Boneh,
Alberto B. Burlina,
Roberto Cerone,
Paula Garcia,
Gülden Gökçay,
Stephanie Grünewald,
Johannes Häberle,
Jaak Jaeken,
David Ketteridge,
Martin Lindner
and 13 other authors
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Upload
2013
Hung-Chun Yu ,
Jennifer L. Sloan,
Gunter Scharer,
Alison Brebner,
Anita M. Quintana,
Nathan P. Achilly,
Irini Manoli ,
Curtis R. Coughlin,
Elizabeth A. Geiger,
Una Schneck,
David Watkins,
Terttu Suormala,
Johan L. K. Van Hove,
Brian Fowler,
Matthias R. Baumgartner
and 3 other authors
,
Jennifer L. Sloan,
Gunter Scharer,
Alison Brebner,
Anita M. Quintana,
Nathan P. Achilly,
Irini Manoli ,
Curtis R. Coughlin,
Elizabeth A. Geiger,
Una Schneck,
David Watkins,
Terttu Suormala,
Johan L. K. Van Hove,
Brian Fowler,
Matthias R. Baumgartner
and 3 other authors
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
Download from www.ncbi.nlm.nih.gov
Marianne Rohrbach ,
Helen L. Spencer,
Louise F. Porter ,
Emma M. M. Burkitt-Wright,
Céline Bürer,
Andreas Janecke ,
Madhura Bakshi,
David Sillence,
Hailah Al-Hussain,
Matthias Baumgartner ,
Beat Steinmann,
Graeme C. M. Black,
Forbes D. C. Manson,
Cecilia Giunta,
Spencer HL Porter LF Burkitt-Wright EM Bürer C Janecke A Bakshi M Sillence D Al-Hussain H Baumgartner M Steinmann B Black GC Manson FD Giunta C. Rohrbach M.
Download from www.ncbi.nlm.nih.gov
,
Helen L. Spencer,
Louise F. Porter ,
Emma M. M. Burkitt-Wright,
Céline Bürer,
Andreas Janecke ,
Madhura Bakshi,
David Sillence,
Hailah Al-Hussain,
Matthias Baumgartner ,
Beat Steinmann,
Graeme C. M. Black,
Forbes D. C. Manson,
Cecilia Giunta,
Spencer HL Porter LF Burkitt-Wright EM Bürer C Janecke A Bakshi M Sillence D Al-Hussain H Baumgartner M Steinmann B Black GC Manson FD Giunta C. Rohrbach M.
Download from www.ncbi.nlm.nih.gov
Corinne M. Rüegger,
Martin Lindner,
Diana Ballhausen,
Matthias R. Baumgartner ,
Skadi Beblo,
Anibh Das,
Matthias Gautschi ,
Esther M. Glahn,
Sarah C. Grünert,
Julia Hennermann,
Michel Hochuli,
Martina Huemer ,
Daniela Karall,
Stefan Kölker,
Robin H. Lachmann
and 13 other authors
,
Skadi Beblo,
Anibh Das,
Matthias Gautschi ,
Esther M. Glahn,
Sarah C. Grünert,
Julia Hennermann,
Michel Hochuli,
Martina Huemer ,
Daniela Karall,
Stefan Kölker,
Robin H. Lachmann
and 13 other authors
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Download from link.springer.com
Sander M. Houten,
Heleen te Brinke,
Simone Denis,
Jos Pn Ruiter,
Alida C. Knegt,
Johannis Bc de Klerk,
Persephone Augoustides-Savvopoulou,
Johannes Häberle,
Matthias R. Baumgartner ,
Turgay Coşkun,
Johannes Zschocke,
Jörn Oliver Sass,
Bwee Tien Poll-The,
Ronald Ja Wanders,
Marinus Duran
,
Turgay Coşkun,
Johannes Zschocke,
Jörn Oliver Sass,
Bwee Tien Poll-The,
Ronald Ja Wanders,
Marinus Duran
Genetic basis of hyperlysinemia
Download from dx.doi.org
A. Haarmann,
M. Mayr ,
E. R. Baumgartner,
S. Kölker,
H. Hopfer,
J. Schnierda,
M. R. Baumgartner ,
O. Devuyst
Download from dx.doi.org
,
E. R. Baumgartner,
S. Kölker,
H. Hopfer,
J. Schnierda,
M. R. Baumgartner ,
O. Devuyst
Download from dx.doi.org
Sarah C. Grünert,
Stephanie Müllerleile,
Michael Barth,
Linda De Silva,
Kerstin Walter,
Melanie Walter,
Regina Ensenauer,
Martin Lindner,
Thomas Meissner,
René Santer,
Olaf A. Bodamer,
Matthias R. Baumgartner ,
Michaela Brunner-Krainz,
Daniela Karall,
Claudia Haase
and 15 other authors
,
Michaela Brunner-Krainz,
Daniela Karall,
Claudia Haase
and 15 other authors
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Download from link.springer.com
Juerg Barben,
Sabina Gallati,
Ralph Fingerhut,
Martin H. Schoeni,
Matthias R. Baumgartner ,
Toni Torresani,
Swiss Cf Screening Group
Download from doi.org
,
Toni Torresani,
Swiss Cf Screening Group
Download from doi.org
Sarah C. Grünert,
Martin Stucki,
Raphael J. Morscher,
Terttu Suormala,
Celine Bürer,
Patricie Burda,
Ernst Christensen,
Can Ficicioglu,
Jürgen Herwig,
Stefan Kölker,
Dorothea Möslinger,
Elisabetta Pasquini,
René Santer,
Ko Otfried Schwab,
Bridget Wilcken
and 3 other authors
Download from dx.doi.org
Johannes A. Mayr,
Tobias B. Haack,
Elisabeth Graf,
Franz A. Zimmermann,
Thomas Wieland,
Birgit Haberberger,
Andrea Superti-Furga,
Janbernd Kirschner,
Beat Steinmann,
Matthias R. Baumgartner ,
Isabella Moroni,
Eleonora Lamantea,
Massimo Zeviani,
Richard J. T. Rodenburg ,
Jan Smeitink
and 4 other authors
,
Isabella Moroni,
Eleonora Lamantea,
Massimo Zeviani,
Richard J. T. Rodenburg ,
Jan Smeitink
and 4 other authors
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Download from doi.org
David Coelho,
Jaeseung C. Kim,
Stephen Fung,
Isabelle R. Miousse ,
Insa Buers,
Marcel du Moulin,
Terttu Suormala,
Patricie Burda,
Michele Frapolli,
Peter Nürnberg,
Martin Stucki,
Holger Thiele,
Wolfgang Höhne,
Horst Robenek,
Nicola Longo
and 9 other authors
,
Insa Buers,
Marcel du Moulin,
Terttu Suormala,
Patricie Burda,
Michele Frapolli,
Peter Nürnberg,
Martin Stucki,
Holger Thiele,
Wolfgang Höhne,
Horst Robenek,
Nicola Longo
and 9 other authors
Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism
Download from www.nature.com
2011
Raphael J. Morscher,
Sarah Catharina Grünert,
Céline Bürer,
Patricie Burda,
Terttu Suormala,
Brian Fowler,
Matthias R. Baumgartner
Download from www.researchgate.net
Download from www.researchgate.net
Missing publications? Search for publications with a matching author name.