Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines von Ebberink, Merel S, Mooyer, Petra A.W, Koster, Janet, Dekker, Conny J.M, Eyskens, François J.M, Dionisi-Vici, Carlo, Clayton, Peter T, Barth, Peter G, Wanders, Ronald J.A, Waterham, Hans R

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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene von Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha

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

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Biochemical studies in fibroblasts to interpret variants of unknown significance in the abcd1 gene von 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, K, Willemsen, Michel A, Hui, Joannie, Vaz, Frédéric M, Ebberink, Merel S, Engelen, Marc, Kemp, Stephan, Ferdinandusse, Sacha

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