Works by Pras-Raves, Mia L

Results: 11

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

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

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

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

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