Zobrazeno 1 - 10
of 125
pro vyhledávání: '"Rebecca Heiner‐Fokkema"'
Autor:
Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)
Abstract Background Monogenetic inborn errors of metabolism cause a wide phenotypic heterogeneity that may even differ between family members carrying the same genetic variant. Computational modelling of metabolic networks may identify putative sourc
Externí odkaz:
https://doaj.org/article/c317aa533e824a27ae9be54b9fd0b3e9
Autor:
Vibeke Marijn Bruinenberg, Els van der Goot, Danique van Vliet, Martijn J. de Groot, Priscila N. Mazzola, Rebecca Heiner-Fokkema, Martijn van Faassen, Francjan J. van Spronsen, Eddy A Van Der Zee
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 10 (2016)
To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the years, it became clear that the strain of mice can influence these results. Nevertheless, ide
Externí odkaz:
https://doaj.org/article/88b529d24b294bf199d0131f4583b118
Autor:
Jorine C. van der Weerd, Annemiek M. J. van Wegberg, Theo S. Boer, Udo F. H. Engelke, Karlien L. M. Coene, Ron A. Wevers, Stephan J. L. Bakker, Pim de Blaauw, Joost Groen, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Publikováno v:
Metabolites, Vol 14, Iss 9, p 479 (2024)
Background: Data suggest that metabolites, other than blood phenylalanine (Phe), better and independently predict clinical outcomes in patients with phenylketonuria (PKU). Methods: To find new biomarkers, we compared the results of untargeted lipidom
Externí odkaz:
https://doaj.org/article/fae5d80b4fa94ebc8c99864dd1ee9285
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 20 (2024)
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS)
Externí odkaz:
https://doaj.org/article/693ce665f4784d2c83d6224c090b19b6
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 66 (2023)
Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as ma
Externí odkaz:
https://doaj.org/article/33564cba8f9b4f748a659a786b91d03e
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023)
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic dis
Externí odkaz:
https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02
Autor:
Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 90-102 (2020)
Abstract Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantif
Externí odkaz:
https://doaj.org/article/6009c65edbbf49f4820c0f103370be32
Autor:
Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
Abstract Background This study investigated the agreement between various dried blood spot (DBS) and venous blood sample measurements of phenylalanine and tyrosine concentrations in Phenylketonuria (PKU) and Tyrosinemia type 1 (TT1) patients. Study d
Externí odkaz:
https://doaj.org/article/89213eef49374052ac8036acb04552e2
Autor:
Joëlle C. Schutten, Peter J. Joris, Ronald P. Mensink, Richard M. Danel, Frans Goorman, M. Rebecca Heiner-Fokkema, Rinse K. Weersma, Charlotte A. Keyzer, Martin H. de Borst, Stephan J. L. Bakker
Publikováno v:
Trials, Vol 20, Iss 1, Pp 1-8 (2019)
Abstract Background Arterial stiffness is closely related to the process of atherosclerosis, an independent cardiovascular risk factor, and predictive of future cardiovascular events and mortality. Recently, we showed that magnesium citrate supplemen
Externí odkaz:
https://doaj.org/article/cdfbccf5c2a349f7b30e915bcc6b78fa
Autor:
Emmalie A. Jager, Merit Schaafsma, Melanie. M. van der Klauw, M. Rebecca Heiner‐Fokkema, Terry G. J. Derks
Publikováno v:
Journal of Inherited Metabolic Disease, 45(6), 1118-1129. SPRINGER
Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). We performed a large retrospective observatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b65359da765e9289262a51d8daf75a9
https://doi.org/10.1002/jimd.12537
https://doi.org/10.1002/jimd.12537