1
van der Hilst, Christian S, Derks, Terry G J, Reijngoud, Dirk-Jan, Smit, G Peter A, TenVergert, Elisabeth M
Veröffentlicht in: van der Hilst , C S , Derks , T G J , Reijngoud , D-J , Smit , G P A & TenVergert , E M 2007 , ' Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency : The homogeneous population of the Netherlands ' , Journal of Pediatrics , vol. 151 , no. 2 , pp. 115-120 . https://doi.org/10.1016/j.jpeds.2007.03.013;
2007
Veröffentlicht in: van der Hilst , C S , Derks , T G J , Reijngoud , D-J , Smit , G P A & TenVergert , E M 2007 , ' Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency : The homogeneous population of the Netherlands ' , Journal of Pediatrics , vol. 151 , no. 2 , pp. 115-120 . https://doi.org/10.1016/j.jpeds.2007.03.013;
2007
2
3
Derks, Terry G J, van Spronsen, Francjan J, Rake, Jan Peter, van der Hilst, Christian S, Span, Mark M, Smit, G Peter A
Veröffentlicht in: Derks , T G J , van Spronsen , F J , Rake , J P , van der Hilst , C S , Span , M M & Smit , G P A 2007 , ' Safe and unsafe duration of fasting for children with MCAD deficiency ' , European Journal of Pediatrics , vol. 166 , no. 1 , pp. 5-11 . https://doi.org/10.1007/s00431-006-0186-0;
2007
Veröffentlicht in: Derks , T G J , van Spronsen , F J , Rake , J P , van der Hilst , C S , Span , M M & Smit , G P A 2007 , ' Safe and unsafe duration of fasting for children with MCAD deficiency ' , European Journal of Pediatrics , vol. 166 , no. 1 , pp. 5-11 . https://doi.org/10.1007/s00431-006-0186-0;
2007
4
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: 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
6
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
7
van Eunen, Karen, Volker-Touw, Catharina M L, Gerding, Albert, Bleeker, Aycha, Wolters, Justina C, Rijt, van, Willemijn, Martines, Anne-Claire M F, Niezen-Koning, Klary E., Heiner, Rebecca M., Permentier, Hjalmar, Groen, Albert K, Reijngoud, Dirk-Jan, Derks, Terry G J, Bakker, Barbara M
Veröffentlicht in: van Eunen , K , Volker-Touw , C M L , Gerding , A , Bleeker , A , Wolters , J C , Rijt, van , W , Martines , A-C M F , Niezen-Koning , K E , Heiner , R M , Permentier , H , Groen , A K , Reijngoud , D-J , Derks , T G J & Bakker , B M 2016 , ' Living on the edge : substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders ' , BMC Biology , vol. 14 , no. 1 , 107 . https://doi.org/10.1186/s12915-016-0327-5;
2016
Veröffentlicht in: van Eunen , K , Volker-Touw , C M L , Gerding , A , Bleeker , A , Wolters , J C , Rijt, van , W , Martines , A-C M F , Niezen-Koning , K E , Heiner , R M , Permentier , H , Groen , A K , Reijngoud , D-J , Derks , T G J & Bakker , B M 2016 , ' Living on the edge : substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders ' , BMC Biology , vol. 14 , no. 1 , 107 . https://doi.org/10.1186/s12915-016-0327-5;
2016
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: Journal of Inherited Metabolic Disease ; volume 45, issue 4, page 804-818 ; ISSN 0141-8955 1573-2665;
2022
Veröffentlicht in: Journal of Inherited Metabolic Disease ; volume 45, issue 4, page 804-818 ; ISSN 0141-8955 1573-2665;
2022
10
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