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Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Published in:
Metabolites (2218-1989), 2021, v. 11, n. 9, p. 568, doi. 10.3390/metabo11090568
By:
- Hoegen, Brechtje;
- Zammit, Alan;
- Gerritsen, Albert;
- Engelke, Udo F. H.;
- Castelein, Steven;
- van de Vorst, Maartje;
- Kluijtmans, Leo A. J.;
- Huigen, Marleen C. D. G.;
- Wevers, Ron A.;
- van Gool, Alain J.;
- Gilissen, Christian;
- Coene, Karlien L. M.;
- Kulkarni, Purva
Publication type:
Article
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 12, doi. 10.1002/jmd2.12223
By:
- Hagemeijer, Marne C.;
- Oussoren, Esmee;
- Ruijter, George J. G.;
- Onkenhout, Willem;
- Huidekoper, Hidde H.;
- Ebberink, Merel S.;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- de Vries, Maaike C.;
- Huigen, Marleen C. D. G.;
- Kluijtmans, Leo A. J.;
- Coene, Karlien L. M.;
- Blom, Henk J
Publication type:
Article
Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186
By:
- Coene, Karlien L. M.;
- Timmer, Corrie;
- Goorden, Susan M. I.;
- Hoedt, Amber E.;
- Kluijtmans, Leo A. J.;
- Janssen, Mirian C. H.;
- Rennings, Alexander J. M.;
- Prinsen, Hubertus C. M. T.;
- Wamelink, Mirjam M. C.;
- Ruijter, George J. G.;
- Körver‐Keularts, Irene M. L. W.;
- Heiner‐Fokkema, M. Rebecca;
- Spronsen, Francjan J.;
- Hollak, Carla E.;
- Vaz, Frédéric M.;
- Bosch, Annet M.;
- Huigen, Marleen C. D. G.
Publication type:
Article
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01909-5
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
Publication type:
Article
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Published in:
Clinical Chemistry, 2022, v. 68, n. 5, p. 732, doi. 10.1093/clinchem/hvab276
By:
- Tseng, Laura A.;
- Engelke, Udo F. H.;
- Huigen, Marleen C. D. G.;
- Kluijtmans, Leo A. J.;
- Haaxma, Charlotte A.;
- Koolen, David A.;
- Bok, Levinus A.;
- Wright, Jason N.;
- Gospe Jr., Sidney M.;
- Janssen, Mirian C. H.;
- van Karnebeek, Clara D. M.;
- Coene, Karlien L. M.
Publication type:
Article
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Published in:
2021
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.;
- 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.;
- Mecinović, Jasmin;
- Struys, Eduard A.;
- Jansen, Laura A.
Publication type:
journal article
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
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.
Publication type:
Article
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Published in:
Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03960-2
By:
- Merx, Jona;
- van Outersterp, Rianne E.;
- Engelke, Udo F. H.;
- Hendriks, Veronique;
- Wevers, Ron A.;
- Huigen, Marleen C. D. G.;
- Waterval, Huub W. A. H.;
- Körver-Keularts, Irene M. L. W.;
- Mecinović, Jasmin;
- Rutjes, Floris P. J. T.;
- Oomens, Jos;
- Coene, Karlien L. M.;
- Martens, Jonathan;
- Boltje, Thomas J.
Publication type:
Article
Identification of a novel resistance (E40F) and compensatory (K43E) substitution in HIV-1 reverse transcriptase.
Published in:
Retrovirology, 2008, v. 5, p. 1, doi. 10.1186/1742-4690-5-20
By:
- Huigen, Marleen C. D. G.;
- van Ham, Petronella M.;
- de Graaf, Loek;
- Kagan, Ron M.;
- Boucher, Charles A. B.;
- Nijhuis, Monique
Publication type:
Article

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