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Stroek, Kevin, Visser, Allerdien, van der Ploeg, Catharina P.B., Zwaveling-Soonawala, Nitash, Heijboer, Annemieke C., Bosch, Annet M., van Trotsenburg, A.S. Paul, Boelen, Anita, Hoogendoorn, Mark, de Jonge, Robert
Veröffentlicht in: Clinical Biochemistry ; volume 116, page 7-10 ; ISSN 0009-9120;
2023
Veröffentlicht in: Clinical Biochemistry ; volume 116, page 7-10 ; ISSN 0009-9120;
2023
3
Stroek, Kevin, Heijboer, Annemieke C., van Veen-Sijne, Marja, Bosch, Annet M., van der Ploeg, Catharina P.B., Zwaveling-Soonawala, Nitash, de Jonge, Robert, van Trotsenburg, A.S. Paul, Boelen, Anita
Veröffentlicht in: European Thyroid Journal ; volume 10, issue 3, page 222-229 ; ISSN 2235-0640 2235-0802;
2021
Veröffentlicht in: European Thyroid Journal ; volume 10, issue 3, page 222-229 ; ISSN 2235-0640 2235-0802;
2021
4
Stroek, Kevin, Heijboer, Annemieke C., van Veen-Sijne, Marja, Bosch, Annet M., van der Ploeg, Catharina P. B., Zwaveling-Soonawala, Nitash, de Jonge, Robert, van Trotsenburg, A. S. Paul, Boelen, Anita
Veröffentlicht in: Stroek , K , Heijboer , A C , van Veen-Sijne , M , Bosch , A M , van der Ploeg , C P B , Zwaveling-Soonawala , N , de Jonge , R , van Trotsenburg , A S P & Boelen , A 2021 , ' Improving the Dutch newborn screening for central congenital hypothyroidism by using 95% reference intervals for thyroxine-binding globulin ' , EUROPEAN THYROID JOURNAL , vol. 10 , no. 3 , pp. 222-229 . https://doi.org/10.1159/000513516;
2021
Veröffentlicht in: Stroek , K , Heijboer , A C , van Veen-Sijne , M , Bosch , A M , van der Ploeg , C P B , Zwaveling-Soonawala , N , de Jonge , R , van Trotsenburg , A S P & Boelen , A 2021 , ' Improving the Dutch newborn screening for central congenital hypothyroidism by using 95% reference intervals for thyroxine-binding globulin ' , EUROPEAN THYROID JOURNAL , vol. 10 , no. 3 , pp. 222-229 . https://doi.org/10.1159/000513516;
2021
5
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
6
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
7
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: Jansen , H I , van Haeringen , M , Bouva , M J , den Elzen , W P J , Bruinstroop , E , van der Ploeg , C P B , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Heijboer , A C , Bosch , A M , de Jonge , R , Hoogendoorn , M & Boelen , A 2023 , ' Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model ' , EUROPEAN THYROID JOURNAL , vol. 12 , no. 6 , e230141 . https://doi.org/10.1530/ETJ-23-0141;
2023
Veröffentlicht in: Jansen , H I , van Haeringen , M , Bouva , M J , den Elzen , W P J , Bruinstroop , E , van der Ploeg , C P B , van Trotsenburg , A S P , Zwaveling-Soonawala , N , Heijboer , A C , Bosch , A M , de Jonge , R , Hoogendoorn , M & Boelen , A 2023 , ' Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model ' , EUROPEAN THYROID JOURNAL , vol. 12 , no. 6 , e230141 . https://doi.org/10.1530/ETJ-23-0141;
2023
8
Touw, Catharina M. L., Smit, G. Peter A., de Vries, Maaike, de Klerk, Johannis B. C., Bosch, Annet M., Visser, Gepke, Mulder, Margot F., Rubio-Gozalbo, M. Estela, Elvers, Bert, Niezen-Koning, Klary E., Wanders, Ronald J. A., Waterham, Hans R., Reijngoud, Dirk-Jan, Derks, Terry G. J.
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012
9
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 the 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 the 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
10
Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven-Duif, Nanda M., Jans, Judith J. M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter 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