The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives von Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, Ijlst, Lodewijk, Wanders, Ronald J A

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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management von Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald J A, Aubourg, Patrick, Poll-The, Bwee Tien

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Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance von Kemp, Stephan, Theodoulou, Frederica L, Wanders, Ronald JA

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Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome von Dudek, Jan, Cheng, I‐Fen, Chowdhury, Arpita, Wozny, Katharina, Balleininger, Martina, Reinhold, Robert, Grunau, Silke, Callegari, Sylvie, Toischer, Karl, Wanders, Ronald JA, Hasenfuß, Gerd, Brügger, Britta, Guan, Kaomei, Rehling, Peter

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The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders von Houten, Sander M, Violante, Sara, Ventura, Fatima V, Wanders, Ronald J.A

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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype von Vaz, Frédéric M., Paulusma, Coen C., Huidekoper, Hidde, de Ru, Minke, Lim, Cynthia, Koster, Janet, Ho‐Mok, Kam, Bootsma, Albert H., Groen, Albert K., Schaap, Frank G., Oude Elferink, Ronald P. J., Waterham, Hans R., Wanders, Ronald J.A.

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A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report von Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald J A, Vamecq, Joseph

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Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S] von Colak, Gozde, Pougovkina, Olga, Dai, Lunzhi, Tan, Minjia, te Brinke, Heleen, Huang, He, Cheng, Zhongyi, Park, Jeongsoon, Wan, Xuelian, Liu, Xiaojing, Yue, Wyatt W., Wanders, Ronald J.A., Locasale, Jason W., Lombard, David B., de Boer, Vincent C.J., Zhao, Yingming

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Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene von Das, Anibh M, Illsinger, Sabine, Lucke, Thomas, Hartmann, Hans, Ruiter, Jos P.N, Steuerwald, Ulrike, Waterham, Hans R, Duran, Marinus, Wanders, Ronald J.A

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Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy von Raas, Quentin, van de Beek, Malu-Clair, Forss-Petter, Sonja, Dijkstra, Inge Me, Deschiffart, Abigail, Freshner, Briana C, Stevenson, Tamara J, Jaspers, Yorrick Rj, Nagtzaam, Liselotte, Wanders, Ronald Ja, van Weeghel, Michel, Engelen-Lee, Joo-Yeon, Engelen, Marc, Eichler, Florian, Berger, Johannes, Bonkowsky, Joshua L, Kemp, Stephan

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Quantitative and Compositional Study of Cardiolipin in Platelets by Electrospray Ionization Mass Spectrometry: Application for the Identification of Barth Syndrome Patients von Valianpour, Fredoen, Wanders, Ronald J.A, Barth, Peter G, Overmars, Henk, van Gennip, Albert H

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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome von Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, René, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J.A., Pals, Steven T., Ocaka, Louise, James, Chela, Müller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J., Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Han G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Taila, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sérgio B., Lessel, Davor, Arts, Heleen H., Kuijpers, Taco W.

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Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids von De Marcos Lousa, Carine, van Roermund, Carlo W. T., Postis, Vincent L. G., Dietrich, Daniela, Kerr, Ian D., Wanders, Ronald J. A., Baldwin, Stephen A., Baker, Alison, Theodoulou, Frederica L.

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Cardiolipin provides an essential activating platform for caspase-8 on mitochondria von Gonzalvez, Francois, Schug, Zachary T, Houtkooper, Riekelt H, MacKenzie, Elaine D, Brooks, David G, Wanders, Ronald J.A, Petit, Patrice X, Vaz, Frédéric M, Gottlieb, Eyal

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The role of the clinician in the multi-omics era: are you ready? von van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wevers, Ron A., Haack, Tobias B., Wanders, Ronald J.A., Boycott, Kym M.

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Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing von Lines, Matthew A, Jobling, Rebekah, Brady, Lauren, Marshall, Christian R, Scherer, Stephen W, Rodriguez, Amadeo R, Lee, Liesly, Lang, Anthony E, Mestre, Tiago A, Wanders, Ronald J.A, Ferdinandusse, Sacha, Tarnopolsky, Mark A

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A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene von Schottmann, Gudrun, Sarpong, Akosua, Lorenz, Carmen, Weinhold, Natalie, Gill, Esther, Teschner, Lisa, Ferdinandusse, Sacha, Wanders, Ronald J. A., Prigione, Alessandro, Schuelke, Markus

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Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome von Dudek, Jan, Cheng, I-Fen, Balleininger, Martina, Vaz, Frédéric M., Streckfuss-Bömeke, Katrin, Hübscher, Daniela, Vukotic, Milena, Wanders, Ronald J.A., Rehling, Peter, Guan, Kaomei

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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization von van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

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Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios[S] von Herzog, Katharina, Pras-Raves, Mia L., Vervaart, Martin A.T., Luyf, Angela C.M., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Vaz, Frédéric M.

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