1
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
2
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