Zobrazeno 1 - 10
of 258
pro vyhledávání: '"Frédéric M, Vaz"'
Autor:
Yorrick R. J. Jaspers, Hemmo A. F. Yska, Caroline G. Bergner, Inge M. E. Dijkstra, Irene C. Huffnagel, Marije M. C. Voermans, Eric Wever, Gajja S. Salomons, Frédéric M. Vaz, Aldo Jongejan, Jill Hermans, Rebecca K. Tryon, Troy C. Lund, Wolfgang Köhler, Marc Engelen, Stephan Kemp
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-16 (2024)
Abstract Background X-linked adrenoleukodystrophy (ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1 resulting very long-chain fatty acids (VLCFA) accumulation in plasma and tissues. Males can present with various clinical mani
Externí odkaz:
https://doaj.org/article/d97e5ad3080540c59c9d92f89579ba8b
Autor:
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 9 (2024)
Externí odkaz:
https://doaj.org/article/0bf961ac479d4f78b70d31fe154d154d
Autor:
Sivaporn Gatechompol, René Lutter, Frédéric M. Vaz, Sasiwimol Ubolyam, Anchalee Avihingsanon, Stephen J. Kerr, Frank van Leth, Frank Cobelens
Publikováno v:
BMC Infectious Diseases, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Non-sputum-based tests are needed to predict or diagnose tuberculosis (TB) disease in people living with HIV (PWH). The enzyme indoleamine 2, 3-dioxygenase-1 (IDO1) is expressed in tuberculoid granuloma and catabolizes tryptophan
Externí odkaz:
https://doaj.org/article/4adc049842ac4120961407617f1e9a8a
Autor:
Yorrick R.J. Jaspers, Sven W. Meyer, Mia L. Pras-Raves, Inge M.E. Dijkstra, Eric J.M. Wever, Adrie D. Dane, Jan-Bert van Klinken, Gajja S. Salomons, Riekelt H. Houtkooper, Marc Engelen, Stephan Kemp, Michel Van Weeghel, Frédéric M. Vaz
Publikováno v:
Journal of Lipid Research, Vol 65, Iss 6, Pp 100567- (2024)
Lipids play pivotal roles in an extensive range of metabolic and physiological processes. In recent years, the convergence of trapped ion mobility spectrometry and MS has enabled 4D-lipidomics, a highly promising technology for comprehensive lipid an
Externí odkaz:
https://doaj.org/article/deec6247e3684b2caada44c6c89b50f6
Autor:
Miao Sun, Cornelia K. Kaminsky, Philip Deppe, Mai-Britt Ilse, Frédéric M. Vaz, Barbara Plecko, Torben Lübke, Linda M. Randolph
Publikováno v:
Genes and Diseases, Vol 11, Iss 3, Pp 101025- (2024)
Externí odkaz:
https://doaj.org/article/360deb19642148408ae569c301ad2850
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 38, Iss , Pp 101264- (2024)
Externí odkaz:
https://doaj.org/article/c600e47e64454d01835063d2a4f79093
Autor:
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variant
Externí odkaz:
https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df
Autor:
Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek
Publikováno v:
Contemporary Clinical Trials Communications, Vol 36, Iss , Pp 101233- (2023)
Rationale: Loss-of-function (LoF) mutations in GRIN2B result in neurologic abnormalities due to N-methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual developmental disability (IDD),
Externí odkaz:
https://doaj.org/article/adbda0d94cdd40879d421b91290d512c
Autor:
Julie van der Post, Thiara E. J. Guerra, Malon van den Hof, Frédéric M. Vaz, Dasja Pajkrt, Jason G. van Genderen
Publikováno v:
Viruses, Vol 16, Iss 4, p 580 (2024)
Children with perinatally acquired human immunodeficiency virus (PHIV) are growing into adulthood with HIV and treatment-associated comorbidities, such as dyslipidemia and insulin resistance. HIV is identified as independent risk factor for cardiovas
Externí odkaz:
https://doaj.org/article/b76730d341654ad78245f1de7a09fc96
Autor:
Hannah G. Juncker, Chris H. P. van den Akker, Pauline L. Meerdink, Aniko Korosi, Frédéric M. Vaz, Johannes B. van Goudoever, Britt J. van Keulen
Publikováno v:
Frontiers in Nutrition, Vol 10 (2023)
BackgroundThe maternal diet greatly influences the nutritional composition of human milk. With the rise of vegan diets by lactating mothers, there are concerns about the nutritional adequacy of their milk. Two important nutrients, vitamin B2 and carn
Externí odkaz:
https://doaj.org/article/17fd5da695d24f34a09411dbb7ed878c