The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
Bosch, Annet M, Stroek, Kevin, Abeling, Nico G, Waterham, Hans R, Ijlst, Lodewijk, Wanders, Ronald J A
Published in Orphanet journal of rare diseases (29.10.2012)
Published in Orphanet journal of rare diseases (29.10.2012)
Get full text
Journal Article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald J A, Aubourg, Patrick, Poll-The, Bwee Tien
Published in Orphanet journal of rare diseases (13.08.2012)
Published in Orphanet journal of rare diseases (13.08.2012)
Get full text
Journal Article
Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
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
Published in EMBO molecular medicine (01.02.2016)
Published in EMBO molecular medicine (01.02.2016)
Get full text
Journal Article
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
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
Published in Orphanet journal of rare diseases (05.10.2010)
Published in Orphanet journal of rare diseases (05.10.2010)
Get full text
Journal Article
Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene
Das, Anibh M, Illsinger, Sabine, Lucke, Thomas, Hartmann, Hans, Ruiter, Jos P.N, Steuerwald, Ulrike, Waterham, Hans R, Duran, Marinus, Wanders, Ronald J.A
Published in Clinical chemistry (Baltimore, Md.) (01.03.2006)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2006)
Get full text
Journal Article
Quantitative and Compositional Study of Cardiolipin in Platelets by Electrospray Ionization Mass Spectrometry: Application for the Identification of Barth Syndrome Patients
Valianpour, Fredoen, Wanders, Ronald J.A, Barth, Peter G, Overmars, Henk, van Gennip, Albert H
Published in Clinical chemistry (Baltimore, Md.) (01.09.2002)
Published in Clinical chemistry (Baltimore, Md.) (01.09.2002)
Get full text
Journal Article
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype
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.
Published in Hepatology (Baltimore, Md.) (01.01.2015)
Published in Hepatology (Baltimore, Md.) (01.01.2015)
Get full text
Journal Article
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation[S]
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
Published in Molecular & cellular proteomics (01.11.2015)
Published in Molecular & cellular proteomics (01.11.2015)
Get full text
Journal Article
The role of the clinician in the multi-omics era: are you ready?
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.
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
Get full text
Journal Article
Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids
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.
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2013)
Get full text
Journal Article
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy
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
Published in The Journal of clinical investigation (15.04.2021)
Published in The Journal of clinical investigation (15.04.2021)
Get full text
Journal Article
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency
Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
Get full text
Journal Article
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene
Schottmann, Gudrun, Sarpong, Akosua, Lorenz, Carmen, Weinhold, Natalie, Gill, Esther, Teschner, Lisa, Ferdinandusse, Sacha, Wanders, Ronald J. A., Prigione, Alessandro, Schuelke, Markus
Published in Movement disorders (01.11.2016)
Published in Movement disorders (01.11.2016)
Get full text
Journal Article
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Barøy, Tuva, Koster, Janet, Strømme, Petter, Ebberink, Merel S, Misceo, Doriana, Ferdinandusse, Sacha, Holmgren, Asbjørn, Hughes, Timothy, Merckoll, Else, Westvik, Jostein, Woldseth, Berit, Walter, John, Wood, Nick, Tvedt, Bjørn, Stadskleiv, Kristine, Wanders, Ronald J A, Waterham, Hans R, Frengen, Eirik
Published in Human molecular genetics (15.10.2015)
Published in Human molecular genetics (15.10.2015)
Get full text
Journal Article
Toshiyuki Fukao
Mitchell, Grant A., Sasai, Hideo, Bastin, Jean, Sass, Jörn Oliver, Wanders, Ronald JA, Yamaguchi, Seiji
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
Get full text
Journal Article
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
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.
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
Get full text
Journal Article
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria
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
Published in The Journal of cell biology (17.11.2008)
Published in The Journal of cell biology (17.11.2008)
Get full text
Journal Article
Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes
Lagerwaard, Bart, Pougovkina, Olga, Bekebrede, Anna F., Brinke, Heleen, Wanders, Ronald J.A., Nieuwenhuizen, Arie G., Keijer, Jaap, Boer, Vincent C. J.
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
Get full text
Journal Article