1
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
2
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
3
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
4
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
5
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
6
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