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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
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