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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Published in:
2019
By:
- Vaz, Frédéric M;
- McDermott, John H;
- Alders, Mariëlle;
- Wortmann, Saskia B;
- Kölker, Stefan;
- Pras-Raves, Mia L;
- Vervaart, Martin A T;
- Lenthe, Henk van;
- Luyf, Angela C M;
- Elfrink, Hyung L;
- Metcalfe, Kay;
- Cuvertino, Sara;
- Clayton, Peter E;
- Yarwood, Rebecca;
- Lowe, Martin P;
- Lovell, Simon;
- Rogers, Richard C;
- Study, Deciphering Developmental Disorders;
- Kampen, Antoine H C van;
- Ruiter, Jos P N
Publication type:
journal article
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 1, p. 12, doi. 10.3390/metabo9010012
By:
- Haijes, Hanneke A.;
- Willemsen, Marcel;
- van der Ham, Maria;
- Gerrits, Johan;
- Pras-Raves, Mia L.;
- Prinsen, Hubertus C. M. T.;
- van Hasselt, Peter M.;
- de Sain-van der Velden, Monique G. M.;
- Verhoeven-Duif, Nanda M.;
- Jans, Judith J. M.
Publication type:
Article
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
Published in:
Communications Biology, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s42003-020-01442-x
By:
- 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
Publication type:
Article
Time‐restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
Published in:
FASEB Journal, 2022, v. 36, n. 2, p. 1, doi. 10.1096/fj.202100707R
By:
- de Goede, Paul;
- Wüst, Rob C. I.;
- Schomakers, Bauke V.;
- Denis, Simone;
- Vaz, Frédéric M.;
- Pras‐Raves, Mia L.;
- van Weeghel, Michel;
- Yi, Chun‐Xia;
- Kalsbeek, Andries;
- Houtkooper, Riekelt H.
Publication type:
Article
Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
Published in:
FASEB Journal, 2021, v. 35, n. 6, p. 1, doi. 10.1096/fj.202100143R
By:
- 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
Publication type:
Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
By:
- 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.
Publication type:
Article
Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
By:
- Staps, Pippa;
- Rizzo, William B.;
- Vaz, Frédéric M.;
- Bugiani, Marianna;
- Giera, Martin;
- Heijs, Bram;
- Kampen, Antoine H. C.;
- Pras‐Raves, Mia L.;
- Breur, Marjolein;
- Groen, Annemieke;
- Ferdinandusse, Sacha;
- Graaf, Marinette;
- Van Goethem, Gert;
- Lammens, Martin;
- Wevers, Ron A.;
- Willemsen, Michèl A. A. P.
Publication type:
Article
Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 414, doi. 10.1002/jimd.12075
By:
- 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.
Publication type:
Article
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 489, doi. 10.1007/s10545-017-0114-7
By:
- 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.
Publication type:
Article
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 479, doi. 10.1007/s10545-017-0076-9
By:
- 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.
Publication type:
Article
Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85455-4
By:
- 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
Publication type:
Article

Found: 11