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

Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese, Matthias R. Baumgartner

doi:10.1002/humu.22779

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

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Patricie Burda

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Alexandra Schäfer

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Terttu Suormala

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Till Rummel

Department of Pediatrics; University Hospital; Münster D-48149 Germany
Céline Bürer

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Dorothea Heuberger

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Michele Frapolli

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Cecilia Giunta

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Jitka Sokolová

Institute of Inherited Metabolic Disorders; First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; Prague Czech Republic
Hana Vlášková

Institute of Inherited Metabolic Disorders; First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; Prague Czech Republic
Viktor Kožich

Institute of Inherited Metabolic Disorders; First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; Prague Czech Republic
Hans Georg Koch

Department of Pediatrics; University Hospital; Münster D-48149 Germany
Brian Fowler

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
D. Sean Froese

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland
Matthias R. Baumgartner

Division of Metabolism and Children's Research Center; University Children's Hospital; Zurich CH-8032 Switzerland