Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start von Stelten, Bianca M.L, Huidekoper, Hidde H, van de Warrenburg, Bart P.C, Brilstra, Eva H, Hollak, Carla E.M, Haak, Harm.R, Kluijtmans, Leo A.J, Wevers, Ron A, Verrips, Aad

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Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy von van Outersterp, Rianne E, Engelke, Udo F.H, Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C.D.G, Kluijtmans, Leo A.J, Mecinović, Jasmin, Rutjes, Floris P.J.T, van Karnebeek, Clara D.M, Wevers, Ron A, Boltje, Thomas J, Coene, Karlien L.M, Martens, Jonathan, Oomens, Jos

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Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective von Martens, Jonathan, van Outersterp, Rianne E., Vreeken, Rob J., Cuyckens, Filip, Coene, Karlien L.M., Engelke, Udo F., Kluijtmans, Leo A.J., Wevers, Ron A., Buydens, Lutgarde M.C., Redlich, Britta, Berden, Giel, Oomens, Jos

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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients von Wortmann, Saskia B., Kluijtmans, Leo A. J., Rodenburg, Richard J., Sass, Jörn Oliver, Nouws, Jessica, van Kaauwen, Edwin P., Kleefstra, Tjitske, Tranebjaerg, Lisbeth, de Vries, Maaike C., Isohanni, Pirjo, Walter, Katharina, Alkuraya, Fowzan S., Smuts, Izelle, Reinecke, Carolus J., van der Westhuizen, Francois H., Thorburn, David, Smeitink, Jan A. M., Morava, Eva, Wevers, Ron A.

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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients von Coene, Karlien L. M., Kluijtmans, Leo A. J., van der Heeft, Ed, Engelke, Udo F. H., de Boer, Siebolt, Hoegen, Brechtje, Kwast, Hanneke J. T., van de Vorst, Maartje, Huigen, Marleen C. D. G., Keularts, Irene M. L. W., Schreuder, Michiel F., van Karnebeek, Clara D. M., Wortmann, Saskia B., de Vries, Maaike C., Janssen, Mirian C. H., Gilissen, Christian, Engel, Jasper, Wevers, Ron A.

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Molecular identification in metabolomics using infrared ion spectroscopy von Martens, Jonathan, Berden, Giel, van Outersterp, Rianne E., Kluijtmans, Leo A. J., Engelke, Udo F., van Karnebeek, Clara D. M., Wevers, Ron A., Oomens, Jos

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness von Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo A J, Rodenburg, Richard J, Nijtmans, Leo G J, Grünewald, Anne, Klein, Christine, Gerhold, Joachim M, Kozicz, Tamas, van Hasselt, Peter M, Harakalova, Magdalena, Kloosterman, Wigard, Barić, Ivo, Pronicka, Ewa, Ucar, Sema Kalkan, Naess, Karin, Singhal, Kapil K, Krumina, Zita, Gilissen, Christian, van Bokhoven, Hans, Veltman, Joris A, Smeitink, Jan A M, Lefeber, Dirk J, Spelbrink, Johannes N, Wevers, Ron A, Morava, Eva, de Brouwer, Arjan P M

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The role of clinical response to treatment in determining pathogenicity of genomic variants von Shen, Joseph J., Wortmann, Saskia B., de Boer, Lonneke, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Koch, Johannes, Ross, Stephanie, Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D. M., Hegde, Madhuri R.

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Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid von Stelten, Bianca M.L., Lycklama à Nijeholt, Geert J., Hendriks, Evelien, Kluijtmans, Leo A.J., Wevers, Ron A., Verrips, Aad

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Urinary excretion of polyols and sugars in children with chronic kidney disease von Vanlede, Koen, Kluijtmans, Leo A. J., Monnens, Leo, Levtchenko, Elena

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy von Engelke, Udo F. H., van Outersterp, Rianne E., Merx, Jona, van Geenen, Fred A. M. G., van Rooij, Arno, Berden, Giel, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Peters, Tessa M. A., Al-Shekaili, Hilal H., Leavitt, Blair R., de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A., Kulkarni, Purva, Rutjes, Floris P. J. T., Mecinovic, Jasmin, Struys, Eduard A., Jansen, Laura A., Gospe, Sidney M., Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A. A. P., Bok, Levinus A., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan, Coene, Karlien L. M.

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Response to Biesecker et al von Shen, Joseph J., Wortmann, Saskia B., Kluijtmans, Leo A. J., Collins, Christin D., van der Lee, Robin, van Karnebeek, Clara D. M., Hegde, Madhuri R.

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Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review von Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M., Mostafavi, Sara

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Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy von Martens, Jonathan, Berden, Giel, Bentlage, Herman, Coene, Karlien L. M., Engelke, Udo F., Wishart, David, van Scherpenzeel, Monique, Kluijtmans, Leo A. J., Wevers, Ron A., Oomens, Jos

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New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs von Vlaardingerbroek, Hester, Ng, Kenneth, Stoll, Barbara, Benight, Nancy, Chacko, Shaji, Kluijtmans, LeoA.J., Kulik, Wim, Squires, E. James, Olutoye, Oluyinka, Schady, Deborah, Finegold, Milton L., van Goudoever, Johannes B., Burrin, Douglas G.

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A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics von Bliziotis, Nikolaos G., Engelke, Udo F. H., Aspers, Ruud L. E. G., Engel, Jasper, Deinum, Jaap, Timmers, Henri J. L. M., Wevers, Ron A., Kluijtmans, Leo A. J.

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Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting von FERRE, Silvia, DE BAAIJ, Jeroen H. F, BINDELS, René J. M, FERREIRA, Patrick, GERMANN, Roger, DE KLERK, Johannis B. C, LAVRIJSEN, Marla, VAN ZEELAND, Femke, VENSELAAR, Hanka, KLUIJTMANS, Leo A. J, HOENDEROP, Joost G. J

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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy von van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., Wevers, Ron A.

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Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon von Kortman, Guus A M, Dutilh, Bas E, Maathuis, Annet J H, Engelke, Udo F, Boekhorst, Jos, Keegan, Kevin P, Nielsen, Fiona G G, Betley, Jason, Weir, Jacqueline C, Kingsbury, Zoya, Kluijtmans, Leo A J, Swinkels, Dorine W, Venema, Koen, Tjalsma, Harold

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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study von Suomalainen, Anu, Prof, Elo, Jenni M, MB, Pietiläinen, Kirsi H, MD, Hakonen, Anna H, MD, Sevastianova, Ksenia, MD, Korpela, Mari, MD, Isohanni, Pirjo, MD, Marjavaara, Sanna K, PhD, Tyni, Tiina, MD, Kiuru-Enari, Sari, MD, Pihko, Helena, Prof, Darin, Niklas, MD, Õunap, Katrin, MD, Kluijtmans, Leo AJ, MD, Paetau, Anders, MD, Buzkova, Jana, MSc, Bindoff, Laurence A, Prof, Annunen-Rasila, Johanna, MD, Uusimaa, Johanna, MD, Rissanen, Aila, Prof, Yki-Järvinen, Hannele, Prof, Hirano, Michio, MD, Tulinius, Mar, Prof, Smeitink, Jan, Prof, Tyynismaa, Henna, PhD

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