E-LIB Suche - Ergebnisse für: Ferdinandusse, Sacha

1

Disorders of fatty acid homeostasis:

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

2

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/..

3

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/..

4

Expanding the allelic spectrum of ELOVL4‐related autosomal ..:

Alabdulrazzaq, Fatima ; Alanzi, Talal ; Al‐Balool, Haya H....
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

5

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/..

6

Vision on gyrate atrophy: why treat the eye?:

Bergen, Arthur A ; Buijs, Mark JN ; ten Asbroek, Anneloor LMA...
EMBO Molecular Medicine. 16 (2023) 1 - p. 4-7 , 2023

Link: https://doi.org/10.1038/..

7

Newborn screening for primary carnitine deficiency: who wil..:

Crefcoeur, Loek ; Ferdinandusse, Sacha ; van der Crabben, Saskia N...
Journal of Medical Genetics. 60 (2023) 12 - p. 1177-1185 , 2023

Link: https://doi.org/10.1136/..

8

Phosphomevalonate kinase deficiency expands the genetic spe..:

Berner, Jakob ; van de Wetering, Cheryl ; Jimenez Heredia, Raul...
Journal of Allergy and Clinical Immunology. 152 (2023) 4 - p. 1025-1031.e2 , 2023

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

9

Cardiovascular involvement in later-onset malonyl-CoA decar..:

Monda, Emanuele ; Bakalakos, Athanasios ; Syrris, Petros...
European Journal of Medical Genetics. 66 (2023) 12 - p. 104885 , 2023

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

10

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/..

11

Thermo‐sensitive mitochondrial trifunctional protein defici..:

Schwantje, Marit ; Ebberink, Merel S. ; Doolaard, Mirjam...
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 819-831 , 2022

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

12

Recurrent metabolic alkalosis following ketone body treatme..:

Stolwijk, Nina N. ; Langeveld, Mirjam ; Jacobs, Bart A. W....
JIMD Reports. 63 (2022) 5 - p. 407-413 , 2022

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

13

Deleterious variants in CRLS1 lead to cardiolipin deficienc..:

Lee, Richard G ; Balasubramaniam, Shanti ; Stentenbach, Maike...
Human Molecular Genetics. 31 (2022) 21 - p. 3597-3612 , 2022

Link: https://doi.org/10.1093/..

14

Disorders of Bile Acid Synthesis:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Vaz, Frédéric M. ; Cassiman, David ; Ferdinandusse, Sacha - p. 1095-1112 , 2022

Link: https://doi.org/10.1007/..

15

Sex‐specific newborn screening for X‐linked adrenoleukodyst..:

Albersen, Monique ; van der Beek, Samantha L. ; Dijkstra, Inge M. E....
Journal of Inherited Metabolic Disease. 46 (2022) 1 - p. 116-128 , 2022

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