Zobrazeno 1 - 10
of 183
pro vyhledávání: '"Francjan J. Van Spronsen"'
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark
Externí odkaz:
https://doaj.org/article/8caa9f33bf9641d69a001f8488e83e1a
Autor:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 34 (2023)
Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability
Externí odkaz:
https://doaj.org/article/40f240a025a94ae59aa75fd1e10fb80c
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:
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
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive o
Externí odkaz:
https://doaj.org/article/456f9a0c82e24d62a934b9c10dcac704
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