E-LIB Suche - Ergebnisse für: Wanders, Ronald J.A.

1

Disorders of fatty acid homeostasis:

Vaz, Frédéric M. ; Ferdinandusse, Sacha ; Salomons, Gajja S..
Journal of Inherited Metabolic Disease. , 2024

Link: https://doi.org/10.1002/..

2

Clinical, biochemical, and genetic spectrum of MADD in a So..:

Bisschoff, Michelle ; Smuts, Izelle ; Dercksen, Marli...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Glyoxylate reductase: Definitive identification in human li..:

Garrelfs, Sander F. ; Chornyi, Serhii ; te Brinke, Heleen...
Journal of Inherited Metabolic Disease. 47 (2024) 2 - p. 280-288 , 2024

Link: https://doi.org/10.1002/..

4

Discovery of novel diagnostic biomarkers for Sjögren-Larsso..:

Vaz, Frédéric M. ; Staps, Pippa ; van Klinken, Jan Bert...
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1869 (2024) 2 - p. 159447 , 2024

Link: https://doi.org/10.1016/..

5

Tracer‐based lipidomics enables the discovery of disease‐sp..:

Schwantje, Marit ; Mosegaard, Signe ; Knottnerus, Suzan J. G....
The FASEB Journal. 38 (2024) 4 - p. , 2024

Link: https://doi.org/10.1096/..

6

The malate-aspartate shuttle is important for de novo serin..:

Broeks, Melissa H. ; Meijer, Nils W.F. ; Westland, Denise...
Cell Reports. 42 (2023) 9 - p. 113043 , 2023

Link: https://doi.org/10.1016/..

7

Maintenance of cellular vitamin B6 levels and mitochondrial..:

Ciapaite, Jolita ; van Roermund, Carlo W.T. ; Bosma, Marjolein...
Journal of Biological Chemistry. 299 (2023) 9 - p. 105047 , 2023

Link: https://doi.org/10.1016/..

8

Human peroxisomal NAD+/NADH homeostasis is regulated by two..:

Chornyi, Serhii ; Costa, Cláudio F. ; IJlst, Lodewijk...
Free Radical Biology and Medicine. 206 (2023) - p. 22-32 , 2023

Link: https://doi.org/10.1016/..

9

Autosomal dominant Zellweger spectrum disorder caused by de..:

Waterham, Hans R. ; Koster, Janet ; Ebberink, Merel S....
Genetics in Medicine. 25 (2023) 11 - p. 100944 , 2023

Link: https://doi.org/10.1016/..

10

Functional and structural impact of 10 ACADM missense mutat..:

Madeira, Catarina A. ; Anselmo, Carolina ; Costa, João M....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869 (2023) 7 - p. 166766 , 2023

Link: https://doi.org/10.1016/..

11

Abnormal activation of MAPKs pathways and inhibition of aut..:

Gragnaniello, Vincenza ; Gueraldi, Daniela ; Puma, Andrea...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

12

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Cli..:

Veenvliet, Annemarijne R.J. ; Garrelfs, Mark R. ; Udink ten Cate, Floris E.A....
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100873 , 2022

Link: https://doi.org/10.1016/..

13

Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotid..:

van Roermund, Carlo W. T. ; IJlst, Lodewijk ; Linka, Nicole..
Frontiers in Cell and Developmental Biology. 9 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

14

Systematic multi‐level analysis of an organelle proteome re..:

Yifrach, Eden ; Holbrook‐Smith, Duncan ; Bürgi, Jérôme...
Molecular Systems Biology. 18 (2022) 9 - p. , 2022

Link: https://doi.org/10.15252..

15

Genetic defects in peroxisome morphogenesis (Pex11β, dynami..:

Abe, Yuichi ; Wanders, Ronald J. A. ; Waterham, Hans R....
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 273-285 , 2022

Link: https://doi.org/10.1002/..