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JIMD Reports|August 9, 2019
Sitosterolemia-10 years observation in two sistersLara Veit, Gabriella Allegri Machado, Céline Bürer, et al.Journal of Inherited Metabolic Disease|November 13, 2022
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduriaCharlotte Ramon, Florian Traversi, Céline Bürer, et al.Human Mutation|May 13, 2017
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduriaTanja Plessl, Céline Bürer, Seraina Lutz, et al.Biochimie|November 21, 2024
Evidence for interaction of 5,10-methylenetetrahydrofolate reductase (MTHFR) with methylenetetrahydrofolate dehydrogenase (MTHFD1) and general control nonderepressible 1 (GCN1)Linda R Büchler, Linnea K M Blomgren, Céline Bürer, et al.Molecular Genetics and Metabolism|January 24, 2012
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiencyRaphael J Morscher, Sarah Catharina Grünert, Céline Bürer, et al.European Journal of Pediatrics|October 4, 2014
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotypeEbtesam M Abdalla, Marianne Rohrbach, Céline Bürer, et al.Nature Communications|April 15, 2024
Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductaseLinnea K M Blomgren, Melanie Huber, Sabrina R Mackinnon, et al.Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 26, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiencyKathrin Heuberger, Henry J Bailey, Patricie Burda, et al.Journal of Inherited Metabolic Disease|June 26, 2016
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesDéborah Mathis, Lucia Abela, Monique Albersen, et al.Human Mutation|March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patientsPatricie Burda, Alexandra Schäfer, Terttu Suormala, et al.Pageof 2