Matthias R. Baumgartner

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

M. Baumgartner, O. Bodamer, E. Morava, 2009, Journal of Inherited Metabolic Disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.

H. Fuchs, M. Angelis, D. Busch, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency

M. Baumgartner, Matthias R. Baumgartner, 2005, Journal of Inherited Metabolic Disease.

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.

M. Baumgartner, E. R. Baumgartner, B. Robinson, 2005, The Journal of clinical endocrinology and metabolism.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system

M. Baumgartner, T. Suormala, D. S. Froese, 2017, Journal of Inherited Metabolic Disease.

Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker

M. Baumgartner, R. Santer, B. Steinmann, 2007, Journal of Inherited Metabolic Disease.