1
Haitjema, Sietske, Lubout, Charlotte M.A., Zijlstra, Justine H.M., Wolffenbuttel, Bruce H.R., van Spronsen, Francjan J.
Veröffentlicht in: Haitjema , S , Lubout , C M A , Zijlstra , J H M , Wolffenbuttel , B H R & van Spronsen , F J 2022 , ' Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands : The Parental Perspective ' , Nutrients , vol. 14 , no. 19 , 3961 . https://doi.org/10.3390/nu14193961;
2022
Veröffentlicht in: Haitjema , S , Lubout , C M A , Zijlstra , J H M , Wolffenbuttel , B H R & van Spronsen , F J 2022 , ' Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands : The Parental Perspective ' , Nutrients , vol. 14 , no. 19 , 3961 . https://doi.org/10.3390/nu14193961;
2022
2
Vester, Marloes E. M., Visser, Gepke, Wijburg, Frits A., van Spronsen, Francjan J., Williams, Monique, van Rijn, Rick R.
Veröffentlicht in: Vester , M E M , Visser , G , Wijburg , F A , van Spronsen , F J , Williams , M & van Rijn , R R 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6;
2016
Veröffentlicht in: Vester , M E M , Visser , G , Wijburg , F A , van Spronsen , F J , Williams , M & van Rijn , R R 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6;
2016
3
Haitjema, Sietske, Lubout, Charlotte M A, Abeln, David, Bruijn-van der Veen, Marlies de, MacDonald, Anita, Wolffenbuttel, Bruce H R, van Spronsen, Francjan J
Veröffentlicht in: Haitjema , S , Lubout , C M A , Abeln , D , Bruijn-van der Veen , M D , MacDonald , A , Wolffenbuttel , B H R & van Spronsen , F J 2022 , ' Dietary treatment in Dutch children with phenylketonuria : An inventory of associated social restrictions and eating problems ' , Nutrition , vol. 97 , 111576 . https://doi.org/10.1016/j.nut.2021.111576;
2022
Veröffentlicht in: Haitjema , S , Lubout , C M A , Abeln , D , Bruijn-van der Veen , M D , MacDonald , A , Wolffenbuttel , B H R & van Spronsen , F J 2022 , ' Dietary treatment in Dutch children with phenylketonuria : An inventory of associated social restrictions and eating problems ' , Nutrition , vol. 97 , 111576 . https://doi.org/10.1016/j.nut.2021.111576;
2022
4
5
Kuypers, Allysa M, Vliet, Kimber Evers-van, MacDonald, Anita, Ahring, Kirsten, Abeln, David, Ford, Suzanne, Hildebrandt-Karlsen, Sanne, van Spronsen, Francjan J, Heiner-Fokkema, M Rebecca
Veröffentlicht in: Kuypers , A M , Vliet , K E , MacDonald , A , Ahring , K , Abeln , D , Ford , S , Hildebrandt-Karlsen , S , van Spronsen , F J & Heiner-Fokkema , M R 2024 , ' Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria : Perspectives from patients and professionals ' , Molecular Genetics and Metabolism , vol. 142 , no. 1 , 108361 . https://doi.org/10.1016/j.ymgme.2024.108361;
2024
Veröffentlicht in: Kuypers , A M , Vliet , K E , MacDonald , A , Ahring , K , Abeln , D , Ford , S , Hildebrandt-Karlsen , S , van Spronsen , F J & Heiner-Fokkema , M R 2024 , ' Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria : Perspectives from patients and professionals ' , Molecular Genetics and Metabolism , vol. 142 , no. 1 , 108361 . https://doi.org/10.1016/j.ymgme.2024.108361;
2024
6
Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique
Veröffentlicht in: European Journal of Human Genetics ; volume 24, issue 10, page 1424-1429 ; ISSN 1018-4813 1476-5438;
2016
Veröffentlicht in: European Journal of Human Genetics ; volume 24, issue 10, page 1424-1429 ; ISSN 1018-4813 1476-5438;
2016
7
Heiner-Fokkema, M. Rebecca, Riphagen, Ineke J., Wiersema, Nicole S., van Zanden, Jelmer J., Kootstra-Ros, Jenny E., Pinxterhuis, Tineke H., Hooimeijer, H. Louise, van Spronsen, Francjan J., Kobold, Anneke C. Muller, de Jong, Wilhelmina H. A.
Veröffentlicht in: Heiner-Fokkema , M R , Riphagen , I J , Wiersema , N S , van Zanden , J J , Kootstra-Ros , J E , Pinxterhuis , T H , Hooimeijer , H L , van Spronsen , F J , Kobold , A C M & de Jong , W H A 2021 , ' Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents ' , Pediatric Research , vol. 90 , pp. 1058–1064 . https://doi.org/10.1038/s41390-021-01372-2;
2021
Veröffentlicht in: Heiner-Fokkema , M R , Riphagen , I J , Wiersema , N S , van Zanden , J J , Kootstra-Ros , J E , Pinxterhuis , T H , Hooimeijer , H L , van Spronsen , F J , Kobold , A C M & de Jong , W H A 2021 , ' Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents ' , Pediatric Research , vol. 90 , pp. 1058–1064 . https://doi.org/10.1038/s41390-021-01372-2;
2021
8
Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C. J. I., Derks, Terry G. J.
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Gozalbo , E R , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Gozalbo , E R , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
9
Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C. J. I., Derks, Terry G. J.
Veröffentlicht in: Journal of Inherited Metabolic Disease ; volume 42, issue 5, page 890-897 ; ISSN 0141-8955 1573-2665;
2019
Veröffentlicht in: Journal of Inherited Metabolic Disease ; volume 42, issue 5, page 890-897 ; ISSN 0141-8955 1573-2665;
2019
10
Jager, Emmalie A, Kuijpers, Myrthe M, Bosch, Annet M, Mulder, Margot F, Rubio-Gozalbo, M Estela, Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R, van Spronsen, Francjan J, Schielen, Peter C J I, Derks, Terry G J
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Rubio-Gozalbo , M E , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Rubio-Gozalbo , M E , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019