Search Results - Marc Engelen

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  1. 1

    The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology by Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani

    Published in Orphanet Journal of Rare Diseases (2024-03-01)
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  2. 2

    Structure and Function of the <i>ABCD1</i> Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy by Eric J. Mallack, Kerry Gao, Marc Engelen, Stephan Kemp

    Published in Cells (2022-01-01)
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  3. 3

    Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening by Hemmo A. F. Yska, Lidewij Henneman, Rinse W. Barendsen, Marc Engelen, Stephan Kemp

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  4. 4

    Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need by Madison I. J. Honey, Yorrick R. J. Jaspers, Marc Engelen, Stephan Kemp, Irene C. Huffnagel

    Published in Cells (2021-12-01)
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  5. 5

    The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review by Yasmin Polak, Laura van Dussen, E. Marleen Kemper, Frédéric M. Vaz, Femke C. C. Klouwer, Marc Engelen, Carla E. M. Hollak

    Published in Orphanet Journal of Rare Diseases (2024-12-01)
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  6. 6

    Cost–Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study by Rosalie C. Martens, Hana M. Broulikova, Marc Engelen, Stephan Kemp, Anita Boelen, Robert de Jonge, Judith E. Bosmans, Annemieke C. Heijboer

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  7. 7

    Bezafibrate for X-linked adrenoleukodystrophy. by Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser, Inge M E Dijkstra, Ronald J A Wanders, Bwee Tien Poll-The, Stephan Kemp

    Published in PLoS ONE (2012-01-01)
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  8. 8

    Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency by 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

    Published in Orphanet Journal of Rare Diseases (2024-09-01)
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  9. 9

    Towards PErsonalised PRognosis for children with traumatic brain injury: the PEPR study protocol by 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

    Published in BMJ Open (2022-06-01)
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  10. 10

    Macrofilaricidal efficacy of single and repeated oral and subcutaneous doses of flubendazole in Litomosoides sigmodontis infected jirds. by Marc P Hübner, Alexandra Ehrens, Marianne Koschel, Bettina Dubben, Franziska Lenz, Stefan J Frohberger, Sabine Specht, Ludo Quirynen, Sophie Lachau-Durand, Fetene Tekle, Benny Baeten, Marc Engelen, Charles D Mackenzie, Achim Hoerauf

    Published in PLoS Neglected Tropical Diseases (2019-01-01)
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  11. 11

    Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry by 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

    Published in Journal of Lipid Research (2024-06-01)
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  12. 12

    Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy by 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

    Published in Communications Medicine (2024-09-01)
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  13. 13

    Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophyResearch in context by 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

    Published in EBioMedicine (2023-10-01)
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  14. 14

    Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing) by Elise A. Ferreira, Elise A. Ferreira, Mark J. N. Buijs, Mark J. N. Buijs, Robin Wijngaard, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Machteld M. Oud, Machteld M. Oud, Frédéric M. Vaz, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld

    Published in Frontiers in Neurology (2023-07-01)
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  15. 15

    CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature by 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

    Published in HGG Advances (2025-01-01)
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