Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Francjan J van Spronsen"'
Autor:
Vibeke M Bruinenberg, Danique van Vliet, Els van der Goot, Danielle S Counotte, Mirjam Kuhn, Francjan J van Spronsen, Eddy A van der Zee
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0213391 (2019)
IntroductionIn phenylketonuria (PKU), a gene mutation in the phenylalanine metabolic pathway causes accumulation of phenylalanine (Phe) in blood and brain. Although early introduction of a Phe-restricted diet can prevent severe symptoms from developi
Externí odkaz:
https://doaj.org/article/19ed840492584282b94b6a33be7e2312
Autor:
Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0185342 (2017)
Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine res
Externí odkaz:
https://doaj.org/article/dfc8c2edd1fe45ed97b56a7942837779
Autor:
Danique van Vliet, Vibeke M Bruinenberg, Priscila N Mazzola, Martijn H J R van Faassen, Pim de Blaauw, Ido P Kema, M Rebecca Heiner-Fokkema, Rogier D van Anholt, Eddy A van der Zee, Francjan J van Spronsen
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0143833 (2015)
Phenylketonuria (PKU) was the first disorder in which severe neurocognitive dysfunction could be prevented by dietary treatment. However, despite this effect, neuropsychological outcome in PKU still remains suboptimal and the phenylalanine-restricted
Externí odkaz:
https://doaj.org/article/162e36cb0ce243df9e6439d4ca7d622e
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:
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:
Els van der Goot, Stefanie N. Vink, Danique van Vliet, Francjan J. van Spronsen, Joana Falcao Salles, Eddy A. van der Zee
Publikováno v:
Frontiers in Nutrition, Vol 8 (2022)
Phenylketonuria (PKU) is a metabolic disorder caused by a hepatic enzyme deficiency causing high blood and brain levels of the amino acid Phenylalanine (Phe), leading to severe cognitive and psychological deficits that can be prevented, but not compl
Externí odkaz:
https://doaj.org/article/6d1ddfa02a394e99a1cd4289b3ab031f
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Externí odkaz:
https://doaj.org/article/a19d37397b204ef6ab079429701b74a9
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 17 (2022)
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited meta1bolic disorders (I
Externí odkaz:
https://doaj.org/article/0a81dc6ddb1e489aa423fa9769bfe43a
Autor:
Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz:
https://doaj.org/article/5e2c03b6081043e5add48aba3812d059