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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
by
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.
Published in
Journal of inherited metabolic disease
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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.
Published in
Journal of inherited metabolic disease
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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.
Published in
Journal of inherited metabolic disease
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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.
Published in
Journal of inherited metabolic disease
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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
Published in
Communications biology
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