Glucose transporter type 1 deficiency syndrome and the ketogenic diet

por Schwantje, Marit, Verhagen, Lilly M., van Hasselt, Peter M., Fuchs, Sabine A.
Publicado 2019

Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

por Schwantje, Marit, de Sain‐van der Velden, Monique, Jans, Judith, van Gassen, Koen, Dorrepaal, Charlotte, Koop, Klaas, Visser, Gepke
Publicado 2019

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

por Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha
Publicado 2022

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherland...

por 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
Publicado 2022

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc...

por Veenvliet, Annemarijne R.J., Garrelfs, Mark R., Udink ten Cate, Floris E.A., Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A., Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M.J., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Wanders, Ronald J.A., Derks, Terry G.J., de Boer, Lonneke, Houtkooper, Riekelt H., de Vries, Maaike C., van Karnebeek, Clara D.M.
Publicado 2022