Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns by Loek L. Crefcoeur, M. Rebecca Heiner‐Fokkema, Rose E. Maase, Gepke Visser, Monique G. M. deSain‐van der Velden

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Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome. by Maurice J C M Magnée, Victor A F Lamme, Monique G M de Sain-van der Velden, Jacob A S Vorstman, Chantal Kemner

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Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio by H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans

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Vitamin B6 in plasma and cerebrospinal fluid of children. by Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm by Hanneke A. Haijes, Maria van der Ham, Hubertus C.M.T. Prinsen, Melissa H. Broeks, Peter M. van Hasselt, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J.M. Jans

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Neonatal carnitine concentrations in relation to gestational age and weight by Loek L. Crefcoeur, Monique G. M. deSain‐van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Frédéric M. Vaz, Gepke Visser, Ronald J.A. Wanders, Frits A. Wijburg, Rendelien K. Verschoof‐Puite, Peter C. J. I. Schielen

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma by Hanneke A. Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L. Pras-Raves, Hubertus C. M. T. Prinsen, Peter M. Van Hasselt, Monique G. M. De Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics by Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases by Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans

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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy by Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen

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