1
Stroek, Kevin, Heijboer, Annemieke C, Bouva, Marelle J, van der Ploeg, Catharina P B, Heijnen, Marie-Louise A, Weijman, Gert, Bosch, Annet M, de Jonge, Robert, Schielen, Peter C J I, van Trotsenburg, A S Paul, Boelen, Anita
Veröffentlicht in: European Journal of Endocrinology ; volume 183, issue 3, page 265-273 ; ISSN 0804-4643 1479-683X;
2020
Veröffentlicht in: European Journal of Endocrinology ; volume 183, issue 3, page 265-273 ; ISSN 0804-4643 1479-683X;
2020
2
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
3
Jansen, Heleen I, van Haeringen, Marije, Bouva, Marelle J, den Elzen, Wendy P J, Bruinstroop, Eveline, van der Ploeg, Catharina P B, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C, Bosch, Annet M, de Jonge, Robert, Hoogendoorn, Mark, Boelen, Anita
Veröffentlicht in: European Thyroid Journal ; volume 12, issue 6 ; ISSN 2235-0802;
2023
Veröffentlicht in: European Thyroid Journal ; volume 12, issue 6 ; ISSN 2235-0802;
2023
4
Schwantje, Marit, Fuchs, Sabine A, de Boer, Lonneke, Bosch, Annet M, Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G J, Ferdinandusse, Sacha, IJlst, Lodewijk, Houtkooper, Riekelt H, Maase, Rose, van der Pol, W Ludo, de Vries, Maaike C, Verschoof-Puite, Rendelien K, Wanders, Ronald J A, Williams, Monique, Wijburg, Frits, Visser, Gepke
Veröffentlicht in: Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , IJlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 4 , pp. 804-818 . https://doi.org/10.1002/jimd.12502;
2022
Veröffentlicht in: Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , IJlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 4 , pp. 804-818 . https://doi.org/10.1002/jimd.12502;
2022
5
Stroek, Kevin, Boelen, Anita, Bouva, Marelle J, De Sain-van der Velden, Monique, Schielen, Peter C J I, Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A J, Mulder, Margot F, Rubio-Gozalbo, M E, van Spronsen, Francjan J, Visser, Gepke, de Vries, Maaike C, Williams, Monique, Heijboer, Annemieke C, Kemper, Evelien A, Bosch, Annet M
Veröffentlicht in: Stroek , K , Boelen , A , Bouva , M J , De Sain-van der Velden , M , Schielen , P C J I , Maase , R , Engel , H , Jakobs , B , Kluijtmans , L A J , Mulder , M F , Rubio-Gozalbo , M E , van Spronsen , F J , Visser , G , de Vries , M C , Williams , M , Heijboer , A C , Kemper , E A & Bosch , A M 2020 , ' Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature : Strategies for optimization ' , JIMD reports , vol. 54 , no. 1 , pp. 68-78 . https://doi.org/10.1002/jmd2.12124;
2020
Veröffentlicht in: Stroek , K , Boelen , A , Bouva , M J , De Sain-van der Velden , M , Schielen , P C J I , Maase , R , Engel , H , Jakobs , B , Kluijtmans , L A J , Mulder , M F , Rubio-Gozalbo , M E , van Spronsen , F J , Visser , G , de Vries , M C , Williams , M , Heijboer , A C , Kemper , E A & Bosch , A M 2020 , ' Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature : Strategies for optimization ' , JIMD reports , vol. 54 , no. 1 , pp. 68-78 . https://doi.org/10.1002/jmd2.12124;
2020
6
Stroek, Kevin, Ruiter, An, van der Linde, Annelieke, Ackermans, Mariette, Bouva, Marelle J, Engel, Henk, Jakobs, Bernadette, Kemper, Evelien A, van den Akker, Erica L T, van Albada, Mirjam E, Bocca, Gianni, Finken, Martijn J J, Hannema, Sabine E, Houdijk, E C A Mieke, van der Kamp, Hetty J, van Tellingen, Vera, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash, Bosch, Annet M, de Jonge, Robert, Heijboer, Annemieke C, Claahsen-van der Grinten, Hedi L, Boelen, Anita
Veröffentlicht in: Stroek , K , Ruiter , A , van der Linde , A , Ackermans , M , Bouva , M J , Engel , H , Jakobs , B , Kemper , E A , van den Akker , E L T , van Albada , M E , Bocca , G , Finken , M J J , Hannema , S E , Houdijk , E C A M , van der Kamp , H J , van Tellingen , V , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Bosch , A M , de Jonge , R , Heijboer , A C , Claahsen-van der Grinten , H L & Boelen , A 2021 , ' Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study ' , Journal of Clinical Endocrinology and Metabolism , vol. 106 , no. 11 , pp. e4487-e4996 . https://doi.org/10.1210/clinem/dgab464;
2021
Veröffentlicht in: Stroek , K , Ruiter , A , van der Linde , A , Ackermans , M , Bouva , M J , Engel , H , Jakobs , B , Kemper , E A , van den Akker , E L T , van Albada , M E , Bocca , G , Finken , M J J , Hannema , S E , Houdijk , E C A M , van der Kamp , H J , van Tellingen , V , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Bosch , A M , de Jonge , R , Heijboer , A C , Claahsen-van der Grinten , H L & Boelen , A 2021 , ' Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study ' , Journal of Clinical Endocrinology and Metabolism , vol. 106 , no. 11 , pp. e4487-e4996 . https://doi.org/10.1210/clinem/dgab464;
2021