Contact details
Stefan Kölker
Main
Publications
Data source publications
- Newborn screening for homocystinurias: Recent recommendations versus current practice.
- Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
- Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
- Postauthorization safety study of betaine anhydrous
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency