Margaretha Rebecca Heiner-Fokkema (M Rebecca Heiner-Fokkema, M R Heiner-Fokkema)

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 22

Top Topics

Peritoneal Dialysis

Gas Chromatography Mass Spectrometry

Deep Brain Stimulation

Top Venues

International journal of neonatal screening

Journal of inherited metabolic disease

This page only lists publications with an associated author ORCID identifier.

Publications

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 F Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, Margaretha Rebecca Heiner-Fokkema, Francjan J van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy. International journal of neonatal screening 10 (1) (2024)
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 F Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, Margaretha Rebecca Heiner-Fokkema, Francjan J van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy. International journal of neonatal screening 10 (1) (2024)
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 F Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, Margaretha Rebecca Heiner-Fokkema, Francjan J van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy. International journal of neonatal screening 10 (1) (2024)
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, Margaretha Rebecca Heiner-Fokkema
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots. International journal of neonatal screening 9 (3) (2023)
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, Annet M Bosch, Marion M G Brands, Irenaeus 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, Margaretha Rebecca Heiner-Fokkema, Francjan J van Spronsen
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. International journal of neonatal screening 9 (4) (2023)
Allysa M Dijkstra, Kimber Evers-van Vliet, Margaretha 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
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. International journal of neonatal screening 9 (4) (2023)
Allysa M Dijkstra, Kimber Evers-van Vliet, Margaretha 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
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. International journal of neonatal screening 9 (4) (2023)
Allysa M Dijkstra, Kimber Evers-van Vliet, Margaretha 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
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. International journal of neonatal screening 9 (4) (2023)
Emmalie A Jager, Merit Schaafsma, Melanie M van der Klauw, Margaretha Rebecca Heiner-Fokkema, Terry G J Derks
Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study. Journal of inherited metabolic disease 45 (6) (2022)
Adrian Post, Daan Kremer, Dion Groothof, Yvonne van der Veen, Pim de Blaauw, Jennifer van der Krogt, Ido P Kema, Ralf Westerhuis, Margaretha Rebecca Heiner-Fokkema, Stephan J L Bakker, Casper F M Franssen
Amino Acid Homeostasis and Fatigue in Chronic Hemodialysis Patients. Nutrients 14 (14) (2022)
Loek L Crefcoeur, Margaretha Rebecca Heiner-Fokkema, Rose E Maase, Gepke Visser, Monique G M de Sain-van der Velden
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns. JIMD reports 64 (1) (2022)
J Casper Swarte, Yanni Li, Shixian Hu, Johannes R Björk, Ranko Gacesa, Arnau Vich Vila, Rianne M Douwes, Valerie Collij, Alexander Kurilshikov, Adrian Post, Marjolein A Y Klaassen, Michele F Eisenga, António W Gomes-Neto, Daan Kremer, Bernadien H Jansen, Tim J Knobbe, Stefan P Berger, Jan-Stephan F Sanders, Margaretha Rebecca Heiner-Fokkema, Robert J Porte, Frans J C Cuperus, Vincent E De Meijer, Cisca Wijmenga, Eleonora A M Festen, Alexandra Zhernakova, Jingyuan Fu, Hermie J M Harmsen, Hans Blokzijl, Stephan J L Bakker, Rinse K Weersma
Gut microbiome dysbiosis is associated with increased mortality after solid organ transplantation. Science translational medicine 14 (660) (2022)
Loek L Crefcoeur, Margaretha Rebecca Heiner-Fokkema, Rose E Maase, Gepke Visser, Monique G M de Sain-van der Velden
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns. JIMD reports 64 (1) (2022)
Abigail Veldman, Mensiena B G Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R Nelen, Richard J Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E T Dollé, Peter C J I Schielen, Francjan J van Spronsen
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead. International journal of neonatal screening 8 (1) (2022)
Yvonne van der Veen, Adrian Post, Daan Kremer, Christa A Koops, Erik Marsman, Theo Y Jerôme Appeldoorn, Daan J Touw, Ralf Westerhuis, Margaretha Rebecca Heiner-Fokkema, Casper F M Franssen, Theo Wallimann, Stephan J L Bakker
Chronic Dialysis Patients Are Depleted of Creatine: Review and Rationale for Intradialytic Creatine Supplementation. Nutrients 13 (8) (2021)
Fabian A Vogelpohl, Antonio W Gomes Neto, Ingrid A Martini, Camilo G Sotomayor, Dion Groothof, Maryse C J Osté, Margaretha Rebecca Heiner-Fokkema, Frits A J Muskiet, Stefan P Berger, Gerjan Navis, Ido P Kema, Stephan J L Bakker
Low Circulating Concentrations of Very Long Chain Saturated Fatty Acids Are Associated with High Risk of Mortality in Kidney Transplant Recipients. Nutrients 13 (10) (2021)
Angelica Rodriguez-Niño, Diego O Pastene, Adrian Post, M Yusof Said, Antonio W Gomes Neto, Lyanne M Kieneker, Margaretha Rebecca Heiner-Fokkema, Tuba Esatbeyoglu, Gerald Rimbach, Peter Schnuelle, Benito A Yard, Stephan J L Bakker
Urinary Carnosinase-1 Excretion is Associated with Urinary Carnosine Depletion and Risk of Graft Failure in Kidney Transplant Recipients: Results of the TransplantLines Cohort Study. Antioxidants (Basel, Switzerland) 10 (7) (2021)
Margaretha Rebecca Heiner-Fokkema, Ineke J Riphagen, Nicole S Wiersema, Jelmer J van Zanden, Jenny E Kootstra-Ros, Tineke H Pinxterhuis, H Louise Hooimeijer, Francjan J van Spronsen, Anneke C Muller Kobold, Wilhelmina H A de Jong
Age dependency of plasma vitamin B12 status markers in Dutch children and adolescents. Pediatric research 90 (5) (2021)
Willemijn J van Rijt, Peter C J I Schielen, Yasemin Özer, Klaas Bijsterveld, Fjodor H van der Sluijs, Terry G J Derks, Margaretha Rebecca Heiner-Fokkema
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism. International journal of neonatal screening 6 (4) (2020)
Kimber van Vliet, Wiggert G van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A Kingma, Francjan J van Spronsen, Margaretha Rebecca Heiner-Fokkema
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine. Orphanet journal of rare diseases 15 (1) (2020)
Margaretha Rebecca Heiner-Fokkema, Jennifer van der Krogt, Foekje de Boer, Marieke J Fokkert-Wilts, Ronald G H J Maatman, Irene J Hoogeveen, Terry G J Derks
The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)
H A Kingma, F H van der Sluijs, Margaretha Rebecca Heiner-Fokkema
Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis. Annals of clinical biochemistry 55 (6) (2018)