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Tseng, L. A., Teela, L., Janssen, M. C., Bok, L. A., Willemsen, M. A.A.P., Neuteboom, R. F., Haverman, L., Gospe, S. M., Coughlin, C. R., van Karnebeek, C. D.M.
Veröffentlicht in: Tseng , L A , Teela , L , Janssen , M C , Bok , L A , Willemsen , M A A P , Neuteboom , R F , Haverman , L , Gospe , S M , Coughlin , C R & van Karnebeek , C D M 2022 , ' Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood : A Dutch pilot study exploring clinical and patient-reported outcomes ' , Molecular Genetics and Metabolism Reports , vol. 31 , 100853 . https://doi.org/10.1016/j.ymgmr.2022.100853;
2022
Veröffentlicht in: Tseng , L A , Teela , L , Janssen , M C , Bok , L A , Willemsen , M A A P , Neuteboom , R F , Haverman , L , Gospe , S M , Coughlin , C R & van Karnebeek , C D M 2022 , ' Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood : A Dutch pilot study exploring clinical and patient-reported outcomes ' , Molecular Genetics and Metabolism Reports , vol. 31 , 100853 . https://doi.org/10.1016/j.ymgmr.2022.100853;
2022
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Haijes, H.A., Molema, F., Langeveld, M., Janssen, M.C., Bosch, A.M., van Spronsen, F., Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J.M., van der Ploeg, A.T., Wagenmakers, M.A., Rubio-Gozalbo, M.E., Brouwers, M.C.G.J., de Vries, M.C., Langendonk, J.G., Williams, M., van Hasselt, P.M.
Veröffentlicht in: Haijes , H A , Molema , F , Langeveld , M , Janssen , M C , Bosch , A M , van Spronsen , F , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Langendonk , J G , Williams , M & van Hasselt , P M 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193;
2020
Veröffentlicht in: Haijes , H A , Molema , F , Langeveld , M , Janssen , M C , Bosch , A M , van Spronsen , F , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Langendonk , J G , Williams , M & van Hasselt , P M 2020 , ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193;
2020
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