Search Results - M. Rebecca Heiner-Fokkema
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1
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism by Willemijn J. van Rijt, Peter C. J. I. Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H. van der Sluijs, Terry G. J. Derks, M. Rebecca Heiner-Fokkema
Published 2020Call Number: Loading…Connect to this object online.
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2
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone by Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout
Published 2023Call Number: Loading…Connect to this object online.
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3
Urinary Carnosinase-1 Excretion is Associated with Urinary Carnosine Depletion and Risk of Graft Failure in Kidney Transplant Recipients: Results of the TransplantLines Cohort Stud... by Angelica Rodriguez-Niño, Diego O. Pastene, Adrian Post, M. Yusof Said, Antonio W. Gomes-Neto, Lyanne M. Kieneker, M. Rebecca Heiner-Fokkema, Tuba Esatbeyoglu, Gerald Rimbach, Peter Schnuelle, Benito A. Yard, Stephan J. L. Bakker
Published 2021Call Number: Loading…Connect to this object online.
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4
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots by Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks, M. Rebecca Heiner-Fokkema
Published 2023Call Number: Loading…Connect to this object online.
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5
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
Published 2024Call Number: Loading…Connect to this object online.
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6
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening by Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2023Call Number: Loading…Connect to this object online.
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