The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

por Ferdinandusse, Sacha, Ebberink, Merel S., Vaz, Frédéric M., Waterham, Hans R., Wanders, Ronald J. A.
Publicado 2016

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

por Berendse, Kevin, Ebberink, Merel S, IJlst, Lodewijk, Poll-The, Bwee Tien, Wanders, Ronald J A, Waterham, Hans R
Publicado 2013

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

por Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, van Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
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

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

por Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, de Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Publicado 2021

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

por van de Stadt, Stephanie I. W., Mooyer, Petra A. W., Dijkstra, Inge M. E., Dekker, Conny J. M., Vats, Divya, Vera, Moin, Ruzhnikov, Maura R. Z., van Haren, Keith, Tang, Nelson, Koop, Klaas, Willemsen, Michel A., Hui, Joannie, Vaz, Frédéric M., Ebberink, Merel S., Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha
Publicado 2021

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

por Albersen, Monique, van der Beek, Samantha L., Dijkstra, Inge M. E., Alders, Mariëlle, Barendsen, Rinse W., Bliek, Jet, Boelen, Anita, Ebberink, Merel S., Ferdinandusse, Sacha, Goorden, Susan M. I., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., Metgod, Ingrid, Salomons, Gajja S., Vaz, Frédéric M., Verschoof‐Puite, Rendelien K., Visser, Wouter F., Dekkers, Eugènie, Engelen, Marc, Kemp, Stephan
Publicado 2022