E-LIB Suche - Ergebnisse für: van Karnebeek, Clara D.M.

1

Breaking the chains of lipoprotein lipase deficiency: A ped..:

den Hollander, Bibiche ; Brands, Marion M. ; Nijhuis, Ilse J.M....
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108347 , 2024

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

2

Dietary management for pyridoxine‐dependent epilepsy due to..:

Dixon, Marjorie ; Millington, Chloe ; Bernstein, Laurie...
JIMD Reports. 65 (2024) 3 - p. 188-203 , 2024

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

3

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phen..:

van Karnebeek, Clara D.M. ; Tarailo-Graovac, Maja ; Leen, René...
Genetics in Medicine. 26 (2024) 6 - p. 101104 , 2024

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

4

Clinical and biochemical footprints of inherited metabolic ..:

de Boer, Lonneke ; Cambi, Alessandra ; Verhagen, Lilly M....
Molecular Genetics and Metabolism. 139 (2023) 1 - p. 107582 , 2023

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

5

Hospital-to-home transitions for children with medical comp..:

de Lange, Annemieke ; Alsem, Mattijs W. ; Haspels, Heleen N....
European Journal of Pediatrics. 182 (2023) 9 - p. 3805-3831 , 2023

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

6

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/..

7

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man t..:

Post, Merel A. ; de Wit, Isis ; Zijlstra, Fokje S. M....
Journal of Inherited Metabolic Disease. 46 (2023) 2 - p. 313-325 , 2023

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

8

Generation of an induced pluripotent stem cell line carryin..:

Schuurmans, Imke M.E. ; Wu, Ka M. ; van Karnebeek, Clara D.M...
Stem Cell Research. 71 (2023) - p. 103173 , 2023

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

9

Generation of an induced pluripotent stem cell line carryin..:

Schuurmans, Imke M.E. ; Wu, Ka M. ; van Karnebeek, Clara D.M...
Stem Cell Research. 69 (2023) - p. 103069 , 2023

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

10

Inherited metabolic disorders in adults: systematic review ..:

Ferreira, Elise A. ; Buijs, Mark J. N. ; Wijngaard, Robin...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

11

Oral sialic acid supplementation inNANS‐CDG: Results of a s..:

den Hollander, Bibiche ; Brands, Marion M. ; de Boer, Lonneke...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 956-971 , 2023

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

12

Exploring genotype–phenotype correlations in glutaric acidu..:

Schuurmans, Imke M. E. ; Dimitrov, Bianca ; Schröter, Julian...
Journal of Inherited Metabolic Disease. 46 (2023) 3 - p. 371-390 , 2023

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

13

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/..

14

Diagnosing, discarding, or de-VUSsing: A practical guide to..:

Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H....
Genetics in Medicine. 25 (2023) 1 - p. 125-134 , 2023

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

15

Disorders of Autophagy:

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

Dionisi Vici, Carlo ; Jungbluth, Heinz ; Carsetti, Rita. - p. 1151-1175 , 2022

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