Author Kölker, Stefan
-
2018 | Journal Article
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Boy, N.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T.; Weinhold, N. & Marquardt, I. et al. (2018)
Annals of Neurology, 83(5) pp. 970-979. DOI: https://doi.org/10.1002/ana.25233
Details DOI
-
2020 | Journal Article
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise
Dimitrov, B.; Molema, F.; Williams, M.; Schmiesing, J.; Mühlhausen, C.; Baumgartner, M. R. & Schumann, A. et al. (2020)
Journal of Inherited Metabolic Disease, 44(1) pp. 9-21. DOI: https://doi.org/10.1002/jimd.12254
Details DOI
-
2020 | Journal Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Märtner, E. M. C.; Maier, E. M.; Mengler, K.; Thimm, E.; Schiergens, K. A.; Marquardt, T. & Santer, R. et al. (2020)
Journal of Inherited Metabolic Disease,. DOI: https://doi.org/10.1002/jimd.12335
Details DOI
-
2020 | Journal Article |
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K.; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al. (2020)
Biomedicines, 8(11) pp. 456. DOI: https://doi.org/10.3390/biomedicines8110456
Details DOI
-
2022 | Journal Article |
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Grohmann‐Held, K.; Burgard, P.; Baerwald, C. G. O.; Beblo, S.; Dahl, S. vom; Das, A. & Dokoupil, K. et al. (2022)
Journal of Inherited Metabolic Disease, art. jimd.12544. DOI: https://doi.org/10.1002/jimd.12544
Details DOI
-
2022 | Journal Article |
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision
Boy, N.; Mühlhausen, C.; Maier, E. M.; Ballhausen, D.; Baumgartner, M. R.; Beblo, S. & Burgard, P. et al. (2022)
Journal of Inherited Metabolic Disease, art. jimd.12566. DOI: https://doi.org/10.1002/jimd.12566
Details DOI