Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
- Nina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, …, Peter Burgard, Markus A Landolt, Martina Huemer
- None, 10.1007/8904_2017_11
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
- Martina Huemer, Daria Diodato, Bernd Schwahn, …, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
- J Inherit Metab Dis, 10.1007/s10545-016-9991-4
Autism in patients with propionic acidemia
- Peter Witters, Eric Debbold, Kea Crivelly, …, Tamas Kozicz, Lisa Settles, Eva Morava
- Mol Genet Metab, 10.1016/j.ymgme.2016.10.009
Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC
- Christine Bassila, Rose Ghemrawi, Justine Flayac, …, Matthias R Baumgartner, Jean-Louis Guéant, David Coelho
- Biochim Biophys Acta Mol Basis Dis, 10.1016/j.bbadis.2016.10.016
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
- Patricie Burda, Terttu Suormala, Dorothea Heuberger, …, Brian Fowler, D Sean Froese, Matthias R Baumgartner
- J Inherit Metab Dis, 10.1007/s10545-016-9987-0
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
- Patrick Forny, Anke Schumann, Merima Mustedanagic, …, D Sean Froese, Olivier Devuyst, Matthias R Baumgartner
- J Biol Chem, 10.1074/jbc.m116.747717
Exome Sequencing and the Management of Neurometabolic Disorders
- Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, …, Graham Sinclair, Wyeth W Wasserman, Clara D van Karnebeek
- N Engl J Med, 10.1056/nejmoa1515792
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)
- Alexander Laemmle, Renata C Gallagher, Adrian Keogh, …, Jean-Marc Nuoffer, Matthias R Baumgartner, Johannes Häberle
- PLoS One, 10.1371/journal.pone.0153358
Successful intrauterine treatment of a patient with cobalamin C defect
- Friedrich K Trefz, Dagmar Scheible, Georg Frauendienst-Egger, …, Brian Fowler, Dorothea Haas, Matthias R Baumgartner
- Mol Genet Metab, 10.1016/j.ymgmr.2016.01.005
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
- Nina A Zeltner, Markus A Landolt, Matthias R Baumgartner, …, Andrea Schlune, Sabine Scholl-Bürgi, Martina Huemer
- None, 10.1007/8904_2016_545
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
- D Sean Froese, Martina Huemer, Terttu Suormala, …, Viktor Kožich, Brian Fowler, Matthias R Baumgartner
- Hum Mutat, 10.1002/humu.22970
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
- Carla E M Hollak, Marieke Biegstraaten, Matthias R Baumgartner, …, Ronald Wanders, Johannes Zschocke, Rob Hagendijk
- Orphanet J Rare Dis, 10.1186/s13023-016-0383-5
Impact of age at onset and newborn screening on outcome in organic acidurias
- Jana Heringer, Vassili Valayannopoulos, Allan M Lund, …, Jiri Zeman, Brigitte Chabrol, Stefan Kölker
- J Inherit Metab Dis, 10.1007/s10545-015-9907-8
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
- Dagmar Jamiolkowski, Stefan Kölker, Esther M Glahn, …, Florian Gleich, Gisela Haege, Peter Burgard
- J Inherit Metab Dis, 10.1007/s10545-015-9887-8