C. Bürer

发表

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings

B. Plecko, D. Mathis, N. Parameswaran, 2018, Neuropediatrics.

Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria

J. Stelling, D. S. Froese, F. Traversi, 2022, bioRxiv.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

D. Sillence, M. Baumgartner, A. Janecke, 2013, Molecular genetics and metabolism.

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

C. Giunta, M. Rohrbach, E. Abdalla, 2014, European Journal of Pediatrics.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

M. Baumgartner, T. Suormala, S. Grünert, 2012, Molecular genetics and metabolism.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Protein destabilization and loss of protein‐protein interaction are fundamental mechanisms in cblA‐type methylmalonic aciduria

M. Baumgartner, W. Yue, D. S. Froese, 2017, Human mutation.

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

M. Hersberger, S. Papuc, A. Rauch, 2016, Journal of Inherited Metabolic Disease.

Insights into Severe 5,10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

M. Baumgartner, T. Suormala, D. S. Froese, 2015, Human mutation.

Shifting landscapes of human MTHFR missense-variant effects

R. Nussbaum, M. Gebbia, R. Rozen, 2021, American journal of human genetics.

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria

H. Fuchs, M. Baumgartner, G. Bommer, 2021, bioRxiv.

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Patrick G. A. Pedrioli, C. Howald, G. Rätsch, 2022, Nature Metabolism.

Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain

G. A. Bezerra, Lei Shi, W. Yue, 2021, Biochimie.

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

M. Baumgartner, T. Suormala, W. Yue, 2019, Biochimica et biophysica acta. Molecular basis of disease.

Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency

M. Baumgartner, T. Suormala, W. Yue, 2018, bioRxiv.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

M. Baumgartner, T. Suormala, E. Holme, 2015, Journal of Inherited Metabolic Disease.

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

M. Baumgartner, D. S. Froese, P. Forny, 2021, Human Genetics.

Sitosterolemia—10 years observation in two sisters

J. Häberle, O. Speer, C. Bürer, 2019, JIMD reports.