Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy by 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, Shekaili, Hilal H. Al, 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., Jr, 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

Get full text

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants by Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.

Get full text

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism by van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan

Get full text

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective by Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Reintjes, Joris T. G., Roullet, Jean‐Baptiste, Broekman, Sanne, Vrieze, Erik, Wijk, Erwin, Wamelink, Mirjam M. C., Artuch, Rafael, Barić, Ivo, Merx, Jona, Boltje, Thomas J., Martens, Jonathan, Willemsen, Michèl A. A. P., Verbeek, Marcel M., Wevers, Ron A., Gibson, K. Michael, Coene, Karlien L. M.

Get full text

Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles by Peters, Tessa M. A., Engelke, Udo F. H., Boer, Siebolt, Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.

Get full text

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit by Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, Boer, Siebolt, Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.

Get full text

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism by van Outersterp, Rianne E., Moons, Sam J., Engelke, Udo F. H., Bentlage, Herman, Peters, Tessa M. A., van Rooij, Arno, Huigen, Marleen C. D. G., de Boer, Siebolt, van der Heeft, Ed, Kluijtmans, Leo A. J., van Karnebeek, Clara D. M., Wevers, Ron A., Berden, Giel, Oomens, Jos, Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan

Get full text

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory by Donker, Albertine E., Schaap, Charlotte C.M., Novotny, Vera M. J., Smeets, Roel, Peters, Tessa M. A., van den Heuvel, Bert L. P., Raphael, Martine F., Rijneveld, Anita W., Appel, Inge M., Vlot, Andre J., Versluijs, A. Birgitta, van Gelder, Michel, Granzen, Bernd, Janssen, Mirian C.H., Rennings, Alexander J.M., van de Veerdonk, Frank L., Brons, Paul P.T., Bakkeren, Dirk L., Nijziel, Marten R., Vlasveld, L. Thom, Swinkels, Dorine W.

Get full text