Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Willem G. van Ginkel"'
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
Autor:
Willem G. van Ginkel, Hannah E. van Reemst, Nienke S. Kienstra, Anne Daly, Iris L. Rodenburg, Anita MacDonald, Johannes G.M. Burgerhof, Pim de Blaauw, Jennifer van de Krogt, Saikat Santra, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Publikováno v:
Nutrients, Vol 11, Iss 11, p 2816 (2019)
Tyrosinemia type 1 (TT1) treatment with 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) and a phenylalanine-tyrosine restricted diet is associated with low phenylalanine concentrations. Phenylalanine supplementation is prescribed with
Externí odkaz:
https://doaj.org/article/1f9562e46c57427d8f87fc587e620930
Autor:
Willem G. van Ginkel, Danique van Vliet, Els van der Goot, Martijn H. J. R. Faassen, Arndt Vogel, M. Rebecca Heiner-Fokkema, Eddy. A. van der Zee, Francjan J. van Spronsen
Publikováno v:
Nutrients, Vol 11, Iss 10, p 2486 (2019)
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Neurocognitive deficiencies have been described in TT1 patients, that have, among others, been related to changes in plasma large neutral ami
Externí odkaz:
https://doaj.org/article/45750d8939cc40dd9d6722897c312804
Autor:
Kimber van Vliet, Iris L. Rodenburg, Willem G. van Ginkel, Charlotte M.A. Lubout, Bruce H.R. Wolffenbuttel, Melanie M. van der Klauw, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Publikováno v:
Nutrients, Vol 11, Iss 9, p 2011 (2019)
Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (
Externí odkaz:
https://doaj.org/article/93edb3cb682f46ddbce42f2e1abf394a
Autor:
Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jörgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Publikováno v:
Journal of Inherited Metabolic Disease, 45, 5, pp. 952-962
Journal of Inherited Metabolic Disease, 45(5), 952-962. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 952-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(5), 952-962. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 952-962. Wiley
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 45, 952-962
Journal of Inherited Metabolic Disease, 45(5), 952-962. Springer Netherlands
Journal of inherited metabolic disease, 45(5), 952-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(5), 952-962. SPRINGER
Journal of Inherited Metabolic Disease, 45(5), 952-962. Wiley
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 45, 952-962
Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine-tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72de86577aab81162333e22064d06f61
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/286856
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/286856
Autor:
Iris L. Rodenburg, Willem G. van Ginkel, Carla E. M. Hollak, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen, Cary O. Harding
Publikováno v:
Paediatric Drugs
Paediatric drugs, 21(6), 413-426. Adis International Ltd
Paediatric drugs, 21(6), 413-426. ADIS INT LTD
Paediatric drugs, 21(6), 413-426. Adis International Ltd
Paediatric drugs, 21(6), 413-426. ADIS INT LTD
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an extr
Autor:
M. Rebecca Heiner-Fokkema, Nienke S Kienstra, Jennifer van de Krogt, Hannah E van Reemst, Iris L. Rodenburg, Francjan J. van Spronsen, Saikat Santra, Pim de Blaauw, Anita MacDonald, Johannes G. M. Burgerhof, Anne Daly, Willem G. van Ginkel
Publikováno v:
Nutrients
Volume 11
Issue 11
Nutrients, 11(11):2816. MDPI AG
Nutrients, Vol 11, Iss 11, p 2816 (2019)
Volume 11
Issue 11
Nutrients, 11(11):2816. MDPI AG
Nutrients, Vol 11, Iss 11, p 2816 (2019)
Tyrosinemia type 1 (TT1) treatment with 2-(2-nitro-4-trifluormethyl-benzyl)-1,3-cyclohexanedione (NTBC) and a phenylalanine-tyrosine restricted diet is associated with low phenylalanine concentrations. Phenylalanine supplementation is prescribed with
Autor:
Patrick J McKiernan, Nienke S Kienstra, Hannah E van Reemst, Willem G. van Ginkel, Esther van Dam, Pim de Blaauw, Anne Daly, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema, Anita MacDonald, Johannes G. M. Burgerhof
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(2), 181-186. SPRINGER
Journal of Inherited Metabolic Disease, 41(2), 181-186. SPRINGER
Introduction In hereditary tyrosinemia type 1 (HT1) patients, the dose of NTBC that leads to the absence of toxic metabolites such as succinylacetone (SA) is still unknown. Therefore, the aims of this study were to investigate the variation and conce
Autor:
Danique van Vliet, Willem G. van Ginkel, Els van der Goot, Eddy A. van der Zee, Francjan J. van Spronsen, Martijn H. J. R. Faassen, Arndt Vogel, M. Rebecca Heiner-Fokkema
Publikováno v:
Nutrients
Nutrients, Vol 11, Iss 10, p 2486 (2019)
Volume 11
Issue 10
Nutrients, 11(10):2486. MDPI AG
Nutrients, Vol 11, Iss 10, p 2486 (2019)
Volume 11
Issue 10
Nutrients, 11(10):2486. MDPI AG
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Neurocognitive deficiencies have been described in TT1 patients, that have, among others, been related to changes in plasma large neutral ami
Autor:
Willem G. van Ginkel, Francjan J. van Spronsen, Iris L. Rodenburg, Charlotte M A Lubout, Melanie M. van der Klauw, M. Rebecca Heiner-Fokkema, Bruce H. R. Wolffenbuttel, Kimber van Vliet
Publikováno v:
Nutrients
Volume 11
Issue 9
Nutrients, 11(9):2011. MDPI AG
Nutrients, Vol 11, Iss 9, p 2011 (2019)
Volume 11
Issue 9
Nutrients, 11(9):2011. MDPI AG
Nutrients, Vol 11, Iss 9, p 2011 (2019)
Phenylketonuria (PKU) is treated with dietary restrictions and sometimes tetrahydrobiopterin (BH4). PKU patients are at risk for developing micronutrient deficiencies, such as vitamin B12 and folic acid, likely due to their diet. Tyrosinemia type 1 (