Physical effects of biologically formed cholesterol oxidation products on lipid membranes investigated with fluorescence depolarization spectroscopy and electron spin resonance.

Autor: J C Verhagen, P ter Braake, J Teunissen, G van Ginkel, A Sevanian

Publikováno v: Journal of Lipid Research, Vol 37, Iss 7, Pp 1488-1502 (1996)

Planar oriented membranes of 1-palmitoyl, 2-oleoyl-phosphatidylcholine (POPC) containing cholesterol, 19-hydroxycholesterol, 22S-hydroxycholesterol, or 25-hydroxycholesterol in concentrations up to 5 mol % were investigated with angle-resolved fluore

Externí odkaz: https://doaj.org/article/a6614c619f984838ba57cf5be858db78

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations

Autor: D, van Vliet, E, van der Goot, W G, van Ginkel, H J R, van Faassen, P, de Blaauw, I P, Kema, M R, Heiner-Fokkema, E A, van der Zee, F J, van Spronsen

Publikováno v: Molecular Genetics and Metabolism, 135(1), 27-34. ACADEMIC PRESS INC ELSEVIER SCIENCE

BACKGROUND: Large neutral amino acid (LNAA) treatment has been suggested as alternative to the burdensome severe phenylalanine-restricted diet. While its working mechanisms and optimal composition have recently been further elucidated, the question w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76446f6115993c84961683fdcf0cfb49
https://research.rug.nl/en/publications/bc2f5a62-40a6-43bc-8b7e-76c89d389338

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

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

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

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4532daa31210799cab3f4bf85ff02bea
http://europepmc.org/articles/PMC6885500

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14276b21d51d980af22a5934111062c9
https://doi.org/10.1007/s10545-017-0112-9