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  1. Darwisch, Warda [Author]; Spangenberg, Marino von [Author]; Lehmann, Jana [Author]; Singin, Öznur [Author]; Deubert, Geralt [Author]; Kühl, Sandra [Author]; Roos, Johannes [Author]; Horstmann, Heinz [Author]; Körber, Christoph [Author]; Hoppe, Simone [Author]; Zheng, Hongwei [Author]; Kuner, Thomas [Author]; Pras-Raves, Mia L. [Author]; van Kampen, Antoine H. C. [Author]; Waterham, Hans R. [Author]; Schwarz, Kathrin V. [Author]; Okun, Jürgen G. [Author]; Schultz, Christian [Author]; Vaz, Frédéric M. [Author]; Islinger, Markus [Author]

    Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

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    26 November 2020

    Published in: Communications biology ; 3(2020), Artikel-ID 713, Seite 1-19

  2. Vaz, Frédéric [Author]; McDermott, John H. [Author]; Alders, Mariëlle [Author]; Wortmann, Saskia Brigitte [Author]; Kölker, Stefan [Author]; Pras-Raves, Mia L. [Author]; Vervaart, Martin A. T. [Author]; van Lenthe, Henk [Author]; Luyf, Angela C. M. [Author]; Elfrink, Hyung L. [Author]; Metcalfe, Kay [Author]; Cuvertino, Sara [Author]; Clayton, Peter E. [Author]; Yarwood, Rebecca [Author]; Lowe, Martin P. [Author]; Lovell, Simon [Author]; Rogers, Richard Curtis [Author]; van Kampen, Antoine H. C. [Author]; Ruiter, Jos P. N. [Author]; Wanders, Ronald J. A. [Author]; Ferdinandusse, Sacha [Author]; van Weeghel, Michel [Author]; Engelen, Marc [Author]; Banka, Siddharth [Author]

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

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    2019

    Published in: Brain ; 142(2019), 11, Seite 3382-3397

  3. Goede, Paul; Wüst, Rob C. I.; Schomakers, Bauke V.; Denis, Simone; Vaz, Frédéric M.; Pras‐Raves, Mia L.; Weeghel, Michel; Yi, Chun‐Xia; Kalsbeek, Andries; Houtkooper, Riekelt H.

    Time‐restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle

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    Wiley, 2022

    Published in: The FASEB Journal

  4. Ramos, Rúben J.; Pras‐Raves, Mia L.; Gerrits, Johan; van der Ham, Maria; Willemsen, Marcel; Prinsen, Hubertus; Burgering, Boudewijn; Jans, Judith J.; Verhoeven‐Duif, Nanda M.

    Vitamin B6 is essential for serine de novo biosynthesis

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    Wiley, 2017

    Published in: Journal of Inherited Metabolic Disease

  5. Held, Ntsiki M.; Buijink, M. Renate; Elfrink, Hyung L.; Kooijman, Sander; Janssens, Georges E.; Luyf, Angela C. M.; Pras-Raves, Mia L.; Vaz, Frédéric M.; Michel, Stephan; Houtkooper, Riekelt H.; van Weeghel, Michel

    Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue

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    Springer Science and Business Media LLC, 2021

    Published in: Scientific Reports

  6. Knottnerus, Suzan J.G.; Pras-Raves, Mia L.; van der Ham, Maria; Ferdinandusse, Sacha; Houtkooper, Riekelt H.; Schielen, Peter C.J.I.; Visser, Gepke; Wijburg, Frits A.; de Sain-van der Velden, Monique G.M.

    Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

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    Elsevier BV, 2020

    Published in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

  7. Herzog, Katharina; Pras‐Raves, Mia L.; Ferdinandusse, Sacha; Vervaart, Martin A. T.; Luyf, Angela C. M.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Vaz, Frédéric M.

    Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

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    Wiley, 2018

    Published in: Journal of Inherited Metabolic Disease

  10. Molenaars, Marte; Schomakers, Bauke V.; Elfrink, Hyung L.; Gao, Arwen W.; Vervaart, Martin A. T.; Pras-Raves, Mia L.; Luyf, Angela C.; Smith, Reuben L.; Sterken, Mark G.; Kammenga, Jan E.; van Kampen, Antoine H. C.; Janssens, Georges E.; Vaz, Frédéric M.; van Weeghel, Michel; Houtkooper, Riekelt H.

    Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

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    The Company of Biologists, 2021

    Published in: Disease Models & Mechanisms

  11. Gao, Arwen W.; Chatzispyrou, Iliana A.; Kamble, Rashmi; Liu, Yasmine J.; Herzog, Katharina; Smith, Reuben L.; van Lenthe, Henk; Vervaart, Martin A. T.; van Cruchten, Arno; Luyf, Angela C.; van Kampen, Antoine; Pras-Raves, Mia L.; Vaz, Frédéric M.; Houtkooper, Riekelt H.

    A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans

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    Springer Science and Business Media LLC, 2017

    Published in: Scientific Reports

  12. Sailer, Sabrina; Lackner, Katharina; Pras-Raves, Mia L.; Wever, Eric J.M.; van Klinken, Jan B.; Dane, Adriaan D.; Geley, Stephan; Koch, Jakob; Golderer, Georg; Werner-Felmayer, Gabriele; Keller, Markus A.; Zwerschke, Werner; Vaz, Frédéric M.; Werner, Ernst R.; Watschinger, Katrin

    Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown

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    Elsevier BV, 2022

    Published in: Journal of Lipid Research

  13. Hermans, Merel E.; van Weeghel, Michel; Vaz, Frédéric M.; Ferdinandusse, Sacha; Hollak, Carla E. M.; Huidekoper, Hidde H.; Janssen, Mirian C. H.; van Kuilenburg, André B. P.; Pras‐Raves, Mia L.; Wamelink, Mirjam M. C.; Wanders, Ronald J. A.; Welsink‐Karssies, Mendy M.; Bosch, Annet M.

    Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

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    Wiley, 2022

    Published in: Journal of Inherited Metabolic Disease

  14. Willems, Anke P.; van der Ham, Maria; Schiebergen-Bronkhorst, Birgit G. M.; van Aalderen, Mirjam; de Barse, Martina M. J.; De Gruyter, Fini E.; van Hoek, Ilja N.; Pras-Raves, Mia L.; de Sain-van der Velden, Monique G. M.; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; Jans, Judith J. M.

    A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

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    Frontiers Media SA, 2023

    Published in: Frontiers in Molecular Biosciences

  15. Harmsen, Jan‐Frieder; van Polanen, Nynke; van Weeghel, Michel; Wefers, Jakob; Hoeks, Joris; Vaz, Frédéric M.; Pras‐Raves, Mia L.; van Kampen, Antoine H. C.; Schaart, Gert; van Moorsel, Dirk; Hansen, Jan; Hesselink, Matthijs K. C.; Houtkooper, Riekelt H.; Schrauwen, Patrick

    Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men

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    Wiley, 2021

    Published in: The FASEB Journal

  16. Darwisch, Warda; von Spangenberg, Marino; Lehmann, Jana; Singin, Öznur; Deubert, Geralt; Kühl, Sandra; Roos, Johannes; Horstmann, Heinz; Körber, Christoph; Hoppe, Simone; Zheng, Hongwei; Kuner, Thomas; Pras-Raves, Mia L.; van Kampen, Antoine H. C.; Waterham, Hans R.; Schwarz, Kathrin V.; Okun, Jürgen G.; Schultz, Christian; Vaz, Frédéric M.; Islinger, Markus

    Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

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    Springer Science and Business Media LLC, 2020

    Published in: Communications Biology

  17. Staps, Pippa; Rizzo, William B.; Vaz, Frédéric M.; Bugiani, Marianna; Giera, Martin; Heijs, Bram; van Kampen, Antoine H. C.; Pras‐Raves, Mia L.; Breur, Marjolein; Groen, Annemieke; Ferdinandusse, Sacha; van der Graaf, Marinette; Van Goethem, Gert; Lammens, Martin; Wevers, Ron A.; Willemsen, Michèl A. A. P.

    Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

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    Wiley, 2020

    Published in: Journal of Inherited Metabolic Disease

  18. Bleeker, Jeannette C.; Kok, Irene L.; Ferdinandusse, Sacha; van der Pol, W. Ludo; Cuppen, Inge; Bosch, Annet M.; Langeveld, Mirjam; Derks, Terry G. J.; Williams, Monique; de Vries, Maaike; Mulder, Margot F.; Gozalbo, Estela R.; de Sain‐van der Velden, Monique G. M.; Rennings, Alexander J.; Schielen, Peter J. C. I.; Dekkers, Eugenie; Houtkooper, Riekelt H.; Waterham, Hans R.; Pras‐Raves, Mia L.; Wanders, Ronald J. A.; van Hasselt, Peter M.; Schoenmakers, Marja; Wijburg, Frits A.; Visser, Gepke

    Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

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    Wiley, 2019

    Published in: Journal of Inherited Metabolic Disease

  19. Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle; Wortmann, Saskia B; Kölker, Stefan; Pras-Raves, Mia L; Vervaart, Martin A T; van Lenthe, Henk; Luyf, Angela C M; Elfrink, Hyung L; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E; Yarwood, Rebecca; Lowe, Martin P; Lovell, Simon; Rogers, Richard C; van Kampen, Antoine H C; Ruiter, Jos P N; Wanders, Ronald J A; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth

    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

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    Oxford University Press (OUP), 2019

    Published in: Brain

  20. Bleeker, Jeannette C.; Kok, Irene L.; Ferdinandusse, Sacha; van der Pol, W. Ludo; Cuppen, Inge; Bosch, Annet M.; Langeveld, Mirjam; Derks, Terry G. J.; Williams, Monique; de Vries, Maaike; Mulder, Margot F; Gozalbo, Estela Rubio; de Sain-van der Velden, Monique G.M.; Rennings, Alexander J.; Schielen, Peter J.C.I.; Dekkers, Eugenie; Houtkooper, Riekelt H.; Waterham, Hans R.; Pras-Raves, Mia L.; Wanders, Ronald J.A.; van Hasselt, Peter M.; Schoenmakers, Marja; Wijburg, Frits A.; Visser, Gepke

    A Decade of Newborn Screening for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD): Benefits, Complications and the Need for Long-Term Follow-Up

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    Elsevier BV, 2018

    Published in: SSRN Electronic Journal