Clinical and biochemical spectrum of D-bifunctional protein deficiency von Ferdinandusse, Sacha, Denis, Simone, Mooyer, Petra A. W., Dekker, Conny, Duran, Marinus, Soorani-Lunsing, Roelineke J., Boltshauser, Eugen, Macaya, Alfons, Gärtner, Jutta, Majoie, Charles B. L. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien

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A Lethal Defect of Mitochondrial and Peroxisomal Fission von Waterham, Hans R, Koster, Janet, van Roermund, Carlo W.T, Mooyer, Petra A.W, Wanders, Ronald J.A, Leonard, James V

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Plasmalogens participate in very-long-chain fatty acid-induced pathology von Brites, Pedro, Mooyer, Petra A. W., el Mrabet, Leila, Waterham, Hans R., Wanders, Ronald J. A.

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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis von Fourcade, Stephane, Ruiz, Montserrat, Camps, Carme, Schluter, Agatha, Houten, Sander M, Mooyer, Petra A. W, Pampols, Teresa, Dacremont, Georges, Wanders, Ronald J. A, Giros, Marisa, Pujol, Aurora

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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency von McMillan, Hugh J, Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C, Lawrence, Sarah E, Mackenzie, Alex, Beaulieu, Chandree L, Mooyer, Petra A W, Wanders, Ronald J A, Majewski, Jacek, Bulman, Dennis E, Geraghty, Michael T, Ferdinandusse, Sacha, Boycott, Kym M

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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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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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Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata von Brites, Pedro, Motley, Alison M., Gressens, Pierre, Mooyer, Petra A.W., Ploegaert, Ingrid, Everts, Vincent, Evrard, Philippe, Carmeliet, Peter, Dewerchin, Mieke, Schoonjans, Luc, Duran, Marinus, Waterham, Hans R., Wanders, Ronald J.A., Baes, Myriam

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Method for measurement of peroxisomal very-long-chain fatty acid β-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid von KEMP, Stephan, VALIANPOUR, Fredoen, MOOYER, Petra A. W, KULIK, Willem, WANDERS, Ronald J. A

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Specific combination of compound heterozygous mutations in 17[beta]-hydroxysteroid dehydrogenase type 4 defines a new subtype of D-bifunctional protein deficiency von McMillan, Hugh J, Worthylake, Thea, Schwartzentruber, Jeremy, Gottlieb, Chloe C, Lawrence, Sarah E, MacKenzie, Alex, Beaulieu, Chandree L, Mooyer, Petra A W, , Wanders, Ronald J A, Majewski, Jacek, Bulman, Dennis E, Geraghty, Michael T, Ferdinandusse, Sacha, Boycott, Kym M

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A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis von FOURCADE, Stéphane, RUIZ, Montserrat, PUJOL, Aurora, CAMPS, Carme, SCHLÜTER, Agatha, HOUTEN, Sander M, MOOYER, Petra A. W, PHMPOLS, Teresa, DACREMONT, Georges, WANDERS, Ronald J. A, GIROS, Marisa

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Method for Measurement of Peroxisomal Very-Long-Chain Fatty Acid β-Oxidation in Human Skin Fibroblasts Using Stable-Isotope-Labeled Tetracosanoic Acid von Kemp, Stephan, Valianpour, Fredoen, Mooyer, Petra A W, Kulik, Willem, Wanders, Ronald J A

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A Lethal Defect of Mitochondrial and Peroxisomal FissionBrief Report von Waterham, Hans R, Koster, Janet, van Roermund, Carlo WT, Mooyer, Petra AW, Wanders, Ronald JA, Leonard, James V

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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder von Ebberink, Merel S., Mooijer, Petra A.W., Gootjes, Jeannette, Koster, Janet, Wanders, Ronald J.A., Waterham, Hans R.

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