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

1

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/..

2

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/..

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

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/..

5

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/..

6

Extending diagnostic practices in gyrate atrophy: Enzymatic..:

Balfoort, Berith M. ; Pampalone, Gioena ; Ruiter, Jos P.N....
Molecular Genetics and Metabolism. 143 (2024) 1-2 - p. 108542 , 2024

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

7

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/..

8

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/..

9

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/..

10

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/..

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

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/..

13

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expandin..:

Sasarman, Florin ; Ferdinandusse, Sacha ; Sinasac, David S....
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 445-455 , 2022

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

14

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/..

15

Multi‐omics in classical galactosemia: Evidence for the inv..:

Hermans, Merel E. ; van Weeghel, Michel ; Vaz, Frédéric M....
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1094-1105 , 2022

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