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1

International validation of meaningfulness of postural sway..:

Yska, Hemmo A. F. ; Turk, Bela R. ; Fatemi, Ali...
Journal of Inherited Metabolic Disease. , 2024

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

2

The pathology of X-linked adrenoleukodystrophy: tissue spec..:

Yska, Hemmo A.F. ; Engelen, Marc ; Bugiani, Marianna
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

3

Systematic study of ophthalmological findings in 10 patient..:

Karuntu, Jessica S. ; Klouwer, Femke C. C. ; Engelen, Marc.
Ophthalmic Genetics. , 2024

Link: https://doi.org/10.1080/..

4

MRI in LARS1 deficiency—Spectrum, patterns, and correlation..:

Hammann, Nicole ; Lenz, Dominic ; Bianzano, Alyssa...
Journal of Inherited Metabolic Disease. , 2024

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

5

Four-dimensional lipidomics profiling in X-linked adrenoleu..:

Jaspers, Yorrick R.J. ; Meyer, Sven W. ; Pras-Raves, Mia L....
Journal of Lipid Research. 65 (2024) 6 - p. 100567 , 2024

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

6

Improving paediatric movement disorders care: Insights on r..:

Amato, María Eugenia ; Darling, Alejandra ; Stovickova, Lucie...
European Journal of Paediatric Neurology. 52 (2024) - p. 10-19 , 2024

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

7

Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Alt..:

van Berkel, Annemiek Arienne ; Lammertse, Hanna Charlotte Andrea ; Öttl, Miriam...
Biological Psychiatry Global Open Science. 4 (2024) 1 - p. 284-298 , 2024

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

8

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/..

9

Feasibility of at-home motor assessments using wireless tec..:

Bergner, Caroline ; Koehler, Wolfgang ; Bonkowsky, Joshua...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

10

Biomarker-based risk prediction for the onset of neuroinfla..:

Weinhofer, Isabelle ; Rommer, Paulus ; Gleiss, Andreas...
eBioMedicine. 96 (2023) - p. 104781 , 2023

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

11

VUS: Variant of uncertain significance or very unclear situ..:

Kemp, Stephan ; Orsini, Joseph J. ; Ebberink, Merel S...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107678 , 2023

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

12

Structured Multidisciplinary Follow-Up After Pediatric Inte..:

de Sonnaville, Eleonore S. V. ; van Woensel, Job B. M. ; van Goudoever, Johannes B....
Pediatric Critical Care Medicine. 24 (2023) 6 - p. 484-498 , 2023

Link: https://doi.org/10.1097/..

13

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain. 146 (2023) 12 - p. 5198-5208 , 2023

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

14

Attitudes of Patients with Adrenoleukodystrophy towards Sex..:

Yska, Hemmo A. F. ; Henneman, Lidewij ; Barendsen, Rinse W...
International Journal of Neonatal Screening. 9 (2023) 3 - p. 51 , 2023

Link: https://doi.org/10.3390/..

15

Myelin content monitoring by diffusion biomarkers in a ther..:

Perlbarg, Vincent ; Pascual, Silvia ; Blanco, Bernardo...
Neurology. 98 (2022) 18_supplement - p. , 2022

Link: https://doi.org/10.1212/..

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