Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Marc Engelen"'
Autor:
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxychol
Externí odkaz:
https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de
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
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process. Revi
Externí odkaz:
https://doaj.org/article/0a7ab393d7ee4a7ba78e06af2344ce85
Autor:
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C
Externí odkaz:
https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3
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:
Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer-Söllner, Stéphane Fourcade, Katharina Grabmeier-Pfistershammer, Marie-Christine Reinert, Jens Göpfert, Anne Heine, Hemmo A.F. Yska, Carlos Casasnovas, Verónica Cantarín, Caroline G. Bergner, Eric Mallack, Sonja Forss-Petter, Patrick Aubourg, Annette Bley, Marc Engelen, Florian Eichler, Troy C. Lund, Aurora Pujol, Wolfgang Köhler, Jörn-Sven Kühl, Johannes Berger
Publikováno v:
EBioMedicine, Vol 96, Iss , Pp 104781- (2023)
Summary: Background: X-linked adrenoleukodystrophy (X-ALD) is highly variable, ranging from slowly progressive adrenomyeloneuropathy to severe brain demyelination and inflammation (cerebral ALD, CALD) affecting males with childhood peak onset. Risk m
Externí odkaz:
https://doaj.org/article/275297f07de64a75ad4b82604a75b650
Autor:
Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Background/ObjectivesThe timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from
Externí odkaz:
https://doaj.org/article/c44c3636bfe843e397324a3fa470aac2
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 51 (2023)
Newborn screening (NBS) for X-linked adrenoleukodystrophy (ALD) can identify affected individuals before the onset of life-threatening manifestations. Some countries have decided to only screen boys (sex-specific screening). This study investigates t
Externí odkaz:
https://doaj.org/article/4f8a5b0ef41e44f5a78ca0aeb1ddfe7e
Autor:
Jaap Oosterlaan, Marsh Königs, Job B M van Woensel, Marc Engelen, Marjan E Steenweg, Petra J W Pouwels, Cece C Kooper, Hilgo Bruining, Arne Popma, Dennis R Buis, Maayke Hunfeld
Publikováno v:
BMJ Open, Vol 12, Iss 6 (2022)
Externí odkaz:
https://doaj.org/article/e9856302d9574816b815afea4d8e39db
Autor:
Wouter J. C. vanBallegoij, Irene C. Huffnagel, Stephanie I. W. van deStadt, Henry C. Weinstein, Carlien A. M. Bennebroek, Marc Engelen, Frank D. Verbraak
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1064-1072 (2021)
Abstract Objective To prospectively determine the value of optical coherence tomography (OCT) as a surrogate outcome measure for the progression of myelopathy in males with adrenoleukodystrophy. Methods Retinal nerve fiber layer (RNFL) and ganglion c
Externí odkaz:
https://doaj.org/article/f65881742621426e812b9016178b50dc